rs7247916

Homo sapiens
A>G
C19orf47 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0200 (5997/29958,GnomAD)
G=0216 (6297/29118,TOPMED)
G=0169 (845/5008,1000G)
G=0149 (574/3854,ALSPAC)
G=0157 (584/3708,TWINSUK)
chr19:40310623 (GRCh38.p7) (19q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.40310623A>G
GRCh37.p13 chr 19NC_000019.9:g.40816530A>G

Gene: C19orf47, chromosome 19 open reading frame 47(minus strand)

Molecule type Change Amino acid[Codon] SO Term
C19orf47 transcript variant 1NM_001256440.1:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant 2NM_001256441.1:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant 3NR_046202.1:n.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant X8XM_011526460.2:c.N/AIntron Variant
C19orf47 transcript variant X2XM_005258520.2:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant X1XM_017026291.1:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant X3XM_017026292.1:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant X4XM_017026293.1:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant X11XM_017026294.1:c.N/AGenic Downstream Transcript Variant
C19orf47 transcript variant X12XM_017026295.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.716G=0.284
1000GenomesAmericanSub694A=0.880G=0.120
1000GenomesEast AsianSub1008A=0.867G=0.133
1000GenomesEuropeSub1006A=0.845G=0.155
1000GenomesGlobalStudy-wide5008A=0.831G=0.169
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.851G=0.149
The Genome Aggregation DatabaseAfricanSub8710A=0.717G=0.283
The Genome Aggregation DatabaseAmericanSub838A=0.900G=0.100
The Genome Aggregation DatabaseEast AsianSub1620A=0.867G=0.133
The Genome Aggregation DatabaseEuropeSub18488A=0.827G=0.172
The Genome Aggregation DatabaseGlobalStudy-wide29958A=0.799G=0.200
The Genome Aggregation DatabaseOtherSub302A=0.860G=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.783G=0.216
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.843G=0.157
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs72479166.2E-05alcoholism (heaviness of drinking)21529783

eQTL of rs7247916 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs7247916 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr194077031940770436E067-46094
chr194077065640770849E067-45681
chr194077109140771251E067-45279
chr194077136840771450E067-45080
chr194077155840771608E067-44922
chr194077181940771879E067-44651
chr194077194040772549E067-43981
chr194077258740772659E067-43871
chr194077276040772827E067-43703
chr194077295340773017E067-43513
chr194077304340773159E067-43371
chr194077319040773244E067-43286
chr194077328440773498E067-43032
chr194077356240773808E067-42722
chr194077391540773965E067-42565
chr194077398140774182E067-42348
chr194077423240774286E067-42244
chr194077442540774781E067-41749
chr194077483540774885E067-41645
chr194077542140775484E067-41046
chr194077553240775739E067-40791
chr194077580440775884E067-40646
chr194077591840776025E067-40505
chr194077612340776173E067-40357
chr194077618740776617E067-39913
chr194077664140776741E067-39789
chr194077737740777447E067-39083
chr194077748740777569E067-38961
chr194077767140777766E067-38764
chr194077777340777852E067-38678
chr194077807140778121E067-38409
chr194077818140778281E067-38249
chr194077834840778658E067-37872
chr194077866940778719E067-37811
chr194077973540779842E067-36688
chr194077989140780102E067-36428
chr194078019240780242E067-36288
chr194078044140780970E067-35560
chr194078111940781309E067-35221
chr194078138440781443E067-35087
chr194078361540783754E067-32776
chr194078379640783871E067-32659
chr194078387440783945E067-32585
chr194078399840784067E067-32463
chr194078407240784711E067-31819
chr194078473840785912E067-30618
chr194078592940785984E067-30546
chr194078599540786083E067-30447
chr194078614040786976E067-29554
chr194078702240787122E067-29408
chr194078750340787918E067-28612
chr194078807240788122E067-28408
chr194078816540788632E067-27898
chr194078864440788688E067-27842
chr194079214740792291E067-24239
chr194079996840800068E067-16462
chr194084742440848146E06730894
chr194084821940848309E06731689
chr194084835040848500E06731820
chr194085062740850843E06734097
chr194085097040851082E06734440
chr194085292640852986E06736396
chr194085754940857602E06741019
chr194085778840857883E06741258
chr194086240940862464E06745879
chr194086248440862569E06745954
chr194086303540863085E06746505
chr194086321540863465E06746685
chr194086363840863860E06747108
chr194077109140771251E068-45279
chr194077136840771450E068-45080
chr194077155840771608E068-44922
chr194077181940771879E068-44651
chr194077194040772549E068-43981
chr194077258740772659E068-43871
chr194077276040772827E068-43703
chr194077295340773017E068-43513
chr194077304340773159E068-43371
chr194077319040773244E068-43286
chr194077328440773498E068-43032
chr194077356240773808E068-42722
chr194077391540773965E068-42565
chr194077398140774182E068-42348
chr194077423240774286E068-42244
chr194077442540774781E068-41749
chr194077483540774885E068-41645
chr194077508440775153E068-41377
chr194077518440775264E068-41266
chr194077542140775484E068-41046
chr194077553240775739E068-40791
chr194077580440775884E068-40646
chr194077591840776025E068-40505
chr194077612340776173E068-40357
chr194077618740776617E068-39913
chr194077664140776741E068-39789
chr194077767140777766E068-38764
chr194077777340777852E068-38678
chr194077807140778121E068-38409
chr194077818140778281E068-38249
chr194077834840778658E068-37872
chr194077866940778719E068-37811
chr194077973540779842E068-36688
chr194077989140780102E068-36428
chr194078019240780242E068-36288
chr194078044140780970E068-35560
chr194078111940781309E068-35221
chr194078138440781443E068-35087
chr194078339640783544E068-32986
chr194078361540783754E068-32776
chr194078379640783871E068-32659
chr194078387440783945E068-32585
chr194078399840784067E068-32463
chr194078407240784711E068-31819
chr194078473840785912E068-30618
chr194078592940785984E068-30546
chr194078599540786083E068-30447
chr194078614040786976E068-29554
chr194078702240787122E068-29408
chr194078750340787918E068-28612
chr194078807240788122E068-28408
chr194078816540788632E068-27898
chr194078864440788688E068-27842
chr194081116540811706E068-4824
chr194084742440848146E06830894
chr194085278840852920E06836258
chr194085292640852986E06836396
chr194085304140853096E06836511
chr194077194040772549E069-43981
chr194077258740772659E069-43871
chr194077276040772827E069-43703
chr194077295340773017E069-43513
chr194077304340773159E069-43371
chr194077319040773244E069-43286
chr194077328440773498E069-43032
chr194077356240773808E069-42722
chr194077391540773965E069-42565
chr194077398140774182E069-42348
chr194077423240774286E069-42244
chr194077442540774781E069-41749
chr194077483540774885E069-41645
chr194077508440775153E069-41377
chr194077518440775264E069-41266
chr194077542140775484E069-41046
chr194077553240775739E069-40791
chr194077580440775884E069-40646
chr194077591840776025E069-40505
chr194077612340776173E069-40357
chr194077618740776617E069-39913
chr194077664140776741E069-39789
chr194077807140778121E069-38409
chr194077818140778281E069-38249
chr194077834840778658E069-37872
chr194077933140779472E069-37058
chr194077949240779570E069-36960
chr194077960140779655E069-36875
chr194077973540779842E069-36688
chr194077989140780102E069-36428
chr194078019240780242E069-36288
chr194078044140780970E069-35560
chr194078111940781309E069-35221
chr194078138440781443E069-35087
chr194078321740783283E069-33247
chr194078339640783544E069-32986
chr194078361540783754E069-32776
chr194078379640783871E069-32659
chr194078387440783945E069-32585
chr194078399840784067E069-32463
chr194078407240784711E069-31819
chr194078473840785912E069-30618
chr194078592940785984E069-30546
chr194078599540786083E069-30447
chr194078614040786976E069-29554
chr194078702240787122E069-29408
chr194078750340787918E069-28612
chr194078807240788122E069-28408
chr194078816540788632E069-27898
chr194078864440788688E069-27842
chr194079214740792291E069-24239
chr194079235340793112E069-23418
chr194080066040800801E069-15729
chr194083575540836026E06919225
chr194083861240838758E06922082
chr194083876340838904E06922233
chr194085062740850843E06934097
chr194085097040851082E06934440
chr194085278840852920E06936258
chr194085292640852986E06936396
chr194085304140853096E06936511
chr194086207240862152E06945542
chr194086229840862397E06945768
chr194086240940862464E06945879
chr194086248440862569E06945954
chr194086303540863085E06946505
chr194086321540863465E06946685
chr194086363840863860E06947108
chr194077989140780102E070-36428
chr194078019240780242E070-36288
chr194078044140780970E070-35560
chr194078592940785984E070-30546
chr194078599540786083E070-30447
chr194078614040786976E070-29554
chr194078807240788122E070-28408
chr194078816540788632E070-27898
chr194078864440788688E070-27842
chr194085127940851329E07034749
chr194085278840852920E07036258
chr194085292640852986E07036396
chr194085304140853096E07036511
chr194077008440770185E071-46345
chr194077031940770436E071-46094
chr194077136840771450E071-45080
chr194077155840771608E071-44922
chr194077181940771879E071-44651
chr194077194040772549E071-43981
chr194077258740772659E071-43871
chr194077276040772827E071-43703
chr194077295340773017E071-43513
chr194077304340773159E071-43371
chr194077319040773244E071-43286
chr194077328440773498E071-43032
chr194077356240773808E071-42722
chr194077391540773965E071-42565
chr194077398140774182E071-42348
chr194077423240774286E071-42244
chr194077442540774781E071-41749
chr194077483540774885E071-41645
chr194077591840776025E071-40505
chr194077612340776173E071-40357
chr194077618740776617E071-39913
chr194077664140776741E071-39789
chr194077777340777852E071-38678
chr194077807140778121E071-38409
chr194077818140778281E071-38249
chr194077960140779655E071-36875
chr194077973540779842E071-36688
chr194077989140780102E071-36428
chr194078019240780242E071-36288
chr194078044140780970E071-35560
chr194078111940781309E071-35221
chr194078138440781443E071-35087
chr194078339640783544E071-32986
chr194078361540783754E071-32776
chr194078379640783871E071-32659
chr194078387440783945E071-32585
chr194078399840784067E071-32463
chr194078407240784711E071-31819
chr194078473840785912E071-30618
chr194078592940785984E071-30546
chr194078599540786083E071-30447
chr194078614040786976E071-29554
chr194078702240787122E071-29408
chr194078750340787918E071-28612
chr194078807240788122E071-28408
chr194078816540788632E071-27898
chr194078864440788688E071-27842
chr194079214740792291E071-24239
chr194079996840800068E071-16462
chr194080066040800801E071-15729
chr194084742440848146E07130894
chr194084821940848309E07131689
chr194084835040848500E07131820
chr194084862240849009E07132092
chr194085043240850536E07133902
chr194085062740850843E07134097
chr194085097040851082E07134440
chr194085278840852920E07136258
chr194085292640852986E07136396
chr194085304140853096E07136511
chr194085561940855679E07139089
chr194085605840856147E07139528
chr194085622640856276E07139696
chr194085629440856387E07139764
chr194086303540863085E07146505
chr194086321540863465E07146685
chr194086363840863860E07147108
chr194086613440866247E07149604
chr194086630040866445E07149770
chr194077008440770185E072-46345
chr194077031940770436E072-46094
chr194077109140771251E072-45279
chr194077136840771450E072-45080
chr194077155840771608E072-44922
chr194077181940771879E072-44651
chr194077194040772549E072-43981
chr194077258740772659E072-43871
chr194077276040772827E072-43703
chr194077295340773017E072-43513
chr194077304340773159E072-43371
chr194077319040773244E072-43286
chr194077328440773498E072-43032
chr194077356240773808E072-42722
chr194077391540773965E072-42565
chr194077398140774182E072-42348
chr194077423240774286E072-42244
chr194077442540774781E072-41749
chr194077483540774885E072-41645
chr194077542140775484E072-41046
chr194077553240775739E072-40791
chr194077580440775884E072-40646
chr194077591840776025E072-40505
chr194077612340776173E072-40357
chr194077618740776617E072-39913
chr194077664140776741E072-39789
chr194077807140778121E072-38409
chr194077818140778281E072-38249
chr194077834840778658E072-37872
chr194077960140779655E072-36875
chr194077973540779842E072-36688
chr194077989140780102E072-36428
chr194078019240780242E072-36288
chr194078044140780970E072-35560
chr194078111940781309E072-35221
chr194078138440781443E072-35087
chr194078144940781499E072-35031
chr194078321740783283E072-33247
chr194078339640783544E072-32986
chr194078361540783754E072-32776
chr194078379640783871E072-32659
chr194078387440783945E072-32585
chr194078399840784067E072-32463
chr194078407240784711E072-31819
chr194078473840785912E072-30618
chr194078592940785984E072-30546
chr194078599540786083E072-30447
chr194078702240787122E072-29408
chr194078750340787918E072-28612
chr194078807240788122E072-28408
chr194078816540788632E072-27898
chr194078864440788688E072-27842
chr194079214740792291E072-24239
chr194079996840800068E072-16462
chr194080066040800801E072-15729
chr194083926840839365E07222738
chr194085043240850536E07233902
chr194085062740850843E07234097
chr194085097040851082E07234440
chr194085292640852986E07236396
chr194085304140853096E07236511
chr194085561940855679E07239089
chr194085605840856147E07239528
chr194085622640856276E07239696
chr194085629440856387E07239764
chr194086167640861727E07245146
chr194086207240862152E07245542
chr194086229840862397E07245768
chr194086240940862464E07245879
chr194086248440862569E07245954
chr194086303540863085E07246505
chr194086321540863465E07246685
chr194086363840863860E07247108
chr194086522440865292E07248694
chr194086531340865371E07248783
chr194086575240865812E07249222
chr194086582140865861E07249291
chr194086596040866020E07249430
chr194076979940769991E073-46539
chr194077008440770185E073-46345
chr194077031940770436E073-46094
chr194077065640770849E073-45681
chr194077109140771251E073-45279
chr194077136840771450E073-45080
chr194077155840771608E073-44922
chr194077181940771879E073-44651
chr194077194040772549E073-43981
chr194077258740772659E073-43871
chr194077276040772827E073-43703
chr194077295340773017E073-43513
chr194077304340773159E073-43371
chr194077319040773244E073-43286
chr194077328440773498E073-43032
chr194077356240773808E073-42722
chr194077391540773965E073-42565
chr194077398140774182E073-42348
chr194077423240774286E073-42244
chr194077442540774781E073-41749
chr194077483540774885E073-41645
chr194077508440775153E073-41377
chr194077518440775264E073-41266
chr194077542140775484E073-41046
chr194077553240775739E073-40791
chr194077580440775884E073-40646
chr194077591840776025E073-40505
chr194077612340776173E073-40357
chr194077618740776617E073-39913
chr194077664140776741E073-39789
chr194077777340777852E073-38678
chr194077807140778121E073-38409
chr194077818140778281E073-38249
chr194077834840778658E073-37872
chr194077866940778719E073-37811
chr194077876640778820E073-37710
chr194077960140779655E073-36875
chr194077973540779842E073-36688
chr194077989140780102E073-36428
chr194078019240780242E073-36288
chr194078044140780970E073-35560
chr194078111940781309E073-35221
chr194078138440781443E073-35087
chr194078144940781499E073-35031
chr194078160140781711E073-34819
chr194078182240781871E073-34659
chr194078191540782166E073-34364
chr194078321740783283E073-33247
chr194078339640783544E073-32986
chr194078361540783754E073-32776
chr194078379640783871E073-32659
chr194078387440783945E073-32585
chr194078399840784067E073-32463
chr194078407240784711E073-31819
chr194078473840785912E073-30618
chr194078592940785984E073-30546
chr194078599540786083E073-30447
chr194078702240787122E073-29408
chr194078750340787918E073-28612
chr194078807240788122E073-28408
chr194078816540788632E073-27898
chr194079214740792291E073-24239
chr194079235340793112E073-23418
chr194079996840800068E073-16462
chr194080066040800801E073-15729
chr194085278840852920E07336258
chr194085292640852986E07336396
chr194085304140853096E07336511
chr194086167640861727E07345146
chr194086207240862152E07345542
chr194086229840862397E07345768
chr194086240940862464E07345879
chr194086248440862569E07345954
chr194086303540863085E07346505
chr194086321540863465E07346685
chr194086363840863860E07347108
chr194076979940769991E074-46539
chr194077008440770185E074-46345
chr194077031940770436E074-46094
chr194077065640770849E074-45681
chr194077109140771251E074-45279
chr194077136840771450E074-45080
chr194077155840771608E074-44922
chr194077181940771879E074-44651
chr194077194040772549E074-43981
chr194077258740772659E074-43871
chr194077276040772827E074-43703
chr194077295340773017E074-43513
chr194077304340773159E074-43371
chr194077319040773244E074-43286
chr194077328440773498E074-43032
chr194077356240773808E074-42722
chr194077391540773965E074-42565
chr194077398140774182E074-42348
chr194077423240774286E074-42244
chr194077442540774781E074-41749
chr194077591840776025E074-40505
chr194077612340776173E074-40357
chr194077618740776617E074-39913
chr194077818140778281E074-38249
chr194077834840778658E074-37872
chr194077866940778719E074-37811
chr194077876640778820E074-37710
chr194077960140779655E074-36875
chr194077973540779842E074-36688
chr194077989140780102E074-36428
chr194078019240780242E074-36288
chr194078044140780970E074-35560
chr194078111940781309E074-35221
chr194078138440781443E074-35087
chr194078144940781499E074-35031
chr194078339640783544E074-32986
chr194078361540783754E074-32776
chr194078379640783871E074-32659
chr194078387440783945E074-32585
chr194078399840784067E074-32463
chr194078407240784711E074-31819
chr194078473840785912E074-30618
chr194078592940785984E074-30546
chr194078599540786083E074-30447
chr194078614040786976E074-29554
chr194078702240787122E074-29408
chr194078750340787918E074-28612
chr194078807240788122E074-28408
chr194078816540788632E074-27898
chr194079214740792291E074-24239
chr194079996840800068E074-16462
chr194080066040800801E074-15729
chr194081116540811706E074-4824
chr194085062740850843E07434097
chr194085097040851082E07434440
chr194085278840852920E07436258
chr194085292640852986E07436396
chr194085304140853096E07436511
chr194086303540863085E07446505
chr194086321540863465E07446685
chr194086363840863860E07447108
chr194077194040772549E081-43981
chr194077258740772659E081-43871
chr194077618740776617E081-39913
chr194077664140776741E081-39789
chr194077960140779655E081-36875
chr194077973540779842E081-36688
chr194077989140780102E081-36428
chr194078019240780242E081-36288
chr194078044140780970E081-35560
chr194078111940781309E081-35221
chr194078379640783871E081-32659
chr194078387440783945E081-32585
chr194078399840784067E081-32463
chr194078407240784711E081-31819
chr194078473840785912E081-30618
chr194078807240788122E081-28408
chr194079214740792291E081-24239
chr194085304140853096E08136511
chr194077194040772549E082-43981
chr194077258740772659E082-43871
chr194077276040772827E082-43703
chr194077295340773017E082-43513
chr194077591840776025E082-40505
chr194077612340776173E082-40357
chr194077618740776617E082-39913
chr194077807140778121E082-38409
chr194077818140778281E082-38249
chr194077834840778658E082-37872
chr194077866940778719E082-37811
chr194077876640778820E082-37710
chr194077890740778970E082-37560
chr194077949240779570E082-36960
chr194077960140779655E082-36875
chr194077973540779842E082-36688
chr194077989140780102E082-36428
chr194078019240780242E082-36288
chr194078473840785912E082-30618
chr194078592940785984E082-30546
chr194078599540786083E082-30447
chr194078614040786976E082-29554
chr194085278840852920E08236258
chr194085292640852986E08236396
chr194085304140853096E08236511










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194078877640792094E067-24436
chr194085355740855588E06737027
chr194078877640792094E068-24436
chr194085355740855588E06837027
chr194078877640792094E069-24436
chr194085355740855588E06937027
chr194078877640792094E070-24436
chr194085355740855588E07037027
chr194078877640792094E071-24436
chr194085355740855588E07137027
chr194078877640792094E072-24436
chr194085355740855588E07237027
chr194078877640792094E073-24436
chr194085355740855588E07337027
chr194078877640792094E074-24436
chr194085355740855588E07437027
chr194078877640792094E081-24436
chr194085355740855588E08137027
chr194078877640792094E082-24436
chr194085355740855588E08237027