rs12775317

Homo sapiens
G>A
ADAMTS14 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0062 (1876/29934,GnomAD)
A=0041 (1221/29118,TOPMED)
A=0027 (133/5008,1000G)
chr10:70702527 (GRCh38.p7) (10q22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
360 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.70702527G>A
GRCh37.p13 chr 10NC_000010.10:g.72462283G>A
ADAMTS14 RefSeqGeneNG_042147.1:g.34725G>A

Gene: ADAMTS14, ADAM metallopeptidase with thrombospondin type 1 motif 14(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADAMTS14 transcript variant 2NM_080722.3:c.N/AIntron Variant
ADAMTS14 transcript variant 1NM_139155.2:c.N/AIntron Variant
ADAMTS14 transcript variant X1XM_011539300.2:c.N/AIntron Variant
ADAMTS14 transcript variant X4XM_011539303.2:c.N/AIntron Variant
ADAMTS14 transcript variant X6XM_011539305.2:c.N/AIntron Variant
ADAMTS14 transcript variant X6XM_011539306.2:c.N/AIntron Variant
ADAMTS14 transcript variant X7XM_011539307.2:c.N/AIntron Variant
ADAMTS14 transcript variant X8XM_011539308.2:c.N/AIntron Variant
ADAMTS14 transcript variant X2XM_011539301.2:c.N/AGenic Upstream Transcript Variant
ADAMTS14 transcript variant X3XM_011539302.2:c.N/AGenic Upstream Transcript Variant
ADAMTS14 transcript variant X9XM_011539309.1:c.N/AGenic Upstream Transcript Variant
ADAMTS14 transcript variant X5XR_001747025.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.997A=0.003
1000GenomesAmericanSub694G=0.960A=0.040
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.912A=0.088
1000GenomesGlobalStudy-wide5008G=0.973A=0.027
1000GenomesSouth AsianSub978G=0.990A=0.010
The Genome Aggregation DatabaseAfricanSub8710G=0.986A=0.014
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1622G=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18462G=0.907A=0.093
The Genome Aggregation DatabaseGlobalStudy-wide29934G=0.937A=0.062
The Genome Aggregation DatabaseOtherSub302G=0.960A=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.958A=0.041
PMID Title Author Journal
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs127753176E-06alcohol dependence21956439

eQTL of rs12775317 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 rs12775317 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 )
chr107242119672421276E067-41007
chr107242132272421500E067-40783
chr107242159372421923E067-40360
chr107242193072422576E067-39707
chr107242381372425106E067-37177
chr107242997172430074E067-32209
chr107243011472430193E067-32090
chr107243027172430355E067-31928
chr107243035872430471E067-31812
chr107243058972430697E067-31586
chr107243070372430753E067-31530
chr107243089972431249E067-31034
chr107243130172431390E067-30893
chr107244567072446011E067-16272
chr107247408272474132E06711799
chr107247418872474248E06711905
chr107247564272476436E06713359
chr107248616572486240E06723882
chr107248642372487309E06724140
chr107248937272489589E06727089
chr107248960172489852E06727318
chr107248985672489989E06727573
chr107248999572490142E06727712
chr107249781372498063E06735530
chr107249813572498604E06735852
chr107242056672420875E068-41408
chr107242119672421276E068-41007
chr107242132272421500E068-40783
chr107242159372421923E068-40360
chr107242193072422576E068-39707
chr107242381372425106E068-37177
chr107242518272425394E068-36889
chr107242541572425508E068-36775
chr107242553372425583E068-36700
chr107243089972431249E068-31034
chr107243130172431390E068-30893
chr107243409172434253E068-28030
chr107243430072434412E068-27871
chr107243448672434593E068-27690
chr107243470072434848E068-27435
chr107243487872435018E068-27265
chr107244281072442860E068-19423
chr107244290072443181E068-19102
chr107244319972443338E068-18945
chr107244339272443605E068-18678
chr107245272372452907E068-9376
chr107245318672453240E068-9043
chr107245335272455311E068-6972
chr107245752972457569E068-4714
chr107245778572457838E068-4445
chr107245800972458303E068-3980
chr107245833472458385E068-3898
chr107247418872474248E06811905
chr107247430572474368E06812022
chr107247484672475005E06812563
chr107247500972475055E06812726
chr107248616572486240E06823882
chr107248642372487309E06824140
chr107248937272489589E06827089
chr107248960172489852E06827318
chr107248985672489989E06827573
chr107248999572490142E06827712
chr107250222772502905E06839944
chr107242056672420875E069-41408
chr107242119672421276E069-41007
chr107242132272421500E069-40783
chr107242159372421923E069-40360
chr107242193072422576E069-39707
chr107242381372425106E069-37177
chr107242518272425394E069-36889
chr107242541572425508E069-36775
chr107242553372425583E069-36700
chr107242997172430074E069-32209
chr107243011472430193E069-32090
chr107243027172430355E069-31928
chr107243035872430471E069-31812
chr107243058972430697E069-31586
chr107243070372430753E069-31530
chr107243089972431249E069-31034
chr107243130172431390E069-30893
chr107243409172434253E069-28030
chr107243430072434412E069-27871
chr107243448672434593E069-27690
chr107243470072434848E069-27435
chr107243487872435018E069-27265
chr107245318672453240E069-9043
chr107245778572457838E069-4445
chr107245800972458303E069-3980
chr107245833472458385E069-3898
chr107247318272473245E06910899
chr107247329172473456E06911008
chr107247371872473768E06911435
chr107247408272474132E06911799
chr107247418872474248E06911905
chr107247430572474368E06912022
chr107247484672475005E06912563
chr107247500972475055E06912726
chr107247533372475455E06913050
chr107247564272476436E06913359
chr107247649672476569E06914213
chr107247671972476769E06914436
chr107248616572486240E06923882
chr107248642372487309E06924140
chr107248835572488413E06926072
chr107248850972488622E06926226
chr107248870972488777E06926426
chr107248897972489033E06926696
chr107248908272489132E06926799
chr107248918972489243E06926906
chr107248929472489354E06927011
chr107248937272489589E06927089
chr107248960172489852E06927318
chr107248985672489989E06927573
chr107248999572490142E06927712
chr107249612072496201E06933837
chr107250222772502905E06939944
chr107242381372425106E070-37177
chr107245752972457569E070-4714
chr107245778572457838E070-4445
chr107245800972458303E070-3980
chr107245833472458385E070-3898
chr107248642372487309E07024140
chr107248918972489243E07026906
chr107248929472489354E07027011
chr107248937272489589E07027089
chr107248960172489852E07027318
chr107242056672420875E071-41408
chr107242119672421276E071-41007
chr107242132272421500E071-40783
chr107242159372421923E071-40360
chr107242193072422576E071-39707
chr107242341072423466E071-38817
chr107242381372425106E071-37177
chr107242518272425394E071-36889
chr107242541572425508E071-36775
chr107242553372425583E071-36700
chr107242965172429701E071-32582
chr107242978572429867E071-32416
chr107242997172430074E071-32209
chr107243011472430193E071-32090
chr107243027172430355E071-31928
chr107243035872430471E071-31812
chr107243058972430697E071-31586
chr107243070372430753E071-31530
chr107243089972431249E071-31034
chr107243130172431390E071-30893
chr107243409172434253E071-28030
chr107243430072434412E071-27871
chr107243448672434593E071-27690
chr107243470072434848E071-27435
chr107243487872435018E071-27265
chr107243531272435484E071-26799
chr107245318672453240E071-9043
chr107245335272455311E071-6972
chr107245752972457569E071-4714
chr107245778572457838E071-4445
chr107245800972458303E071-3980
chr107245833472458385E071-3898
chr107247408272474132E07111799
chr107247418872474248E07111905
chr107247430572474368E07112022
chr107247533372475455E07113050
chr107247564272476436E07113359
chr107247649672476569E07114213
chr107247671972476769E07114436
chr107247682372476867E07114540
chr107247688472476924E07114601
chr107248616572486240E07123882
chr107248642372487309E07124140
chr107248937272489589E07127089
chr107248960172489852E07127318
chr107248985672489989E07127573
chr107248999572490142E07127712
chr107249781372498063E07135530
chr107250222772502905E07139944
chr107242056672420875E072-41408
chr107242119672421276E072-41007
chr107242132272421500E072-40783
chr107242159372421923E072-40360
chr107242193072422576E072-39707
chr107242381372425106E072-37177
chr107242518272425394E072-36889
chr107242541572425508E072-36775
chr107242553372425583E072-36700
chr107243448672434593E072-27690
chr107245318672453240E072-9043
chr107245778572457838E072-4445
chr107245800972458303E072-3980
chr107245833472458385E072-3898
chr107247329172473456E07211008
chr107247371872473768E07211435
chr107247408272474132E07211799
chr107247418872474248E07211905
chr107247430572474368E07212022
chr107247564272476436E07213359
chr107248616572486240E07223882
chr107248960172489852E07227318
chr107248985672489989E07227573
chr107248999572490142E07227712
chr107242132272421500E073-40783
chr107242159372421923E073-40360
chr107242381372425106E073-37177
chr107242518272425394E073-36889
chr107242541572425508E073-36775
chr107242553372425583E073-36700
chr107248616572486240E07323882
chr107248642372487309E07324140
chr107242056672420875E074-41408
chr107242119672421276E074-41007
chr107242132272421500E074-40783
chr107242159372421923E074-40360
chr107242193072422576E074-39707
chr107242341072423466E074-38817
chr107242381372425106E074-37177
chr107242965172429701E074-32582
chr107242978572429867E074-32416
chr107242997172430074E074-32209
chr107243011472430193E074-32090
chr107243027172430355E074-31928
chr107243035872430471E074-31812
chr107243058972430697E074-31586
chr107243070372430753E074-31530
chr107243089972431249E074-31034
chr107243130172431390E074-30893
chr107243430072434412E074-27871
chr107243448672434593E074-27690
chr107243470072434848E074-27435
chr107243487872435018E074-27265
chr107243531272435484E074-26799
chr107245318672453240E074-9043
chr107245335272455311E074-6972
chr107245713072457239E074-5044
chr107245752972457569E074-4714
chr107245778572457838E074-4445
chr107245800972458303E074-3980
chr107245833472458385E074-3898
chr107247329172473456E07411008
chr107247371872473768E07411435
chr107247408272474132E07411799
chr107247418872474248E07411905
chr107247430572474368E07412022
chr107247484672475005E07412563
chr107247500972475055E07412726
chr107247533372475455E07413050
chr107247564272476436E07413359
chr107247649672476569E07414213
chr107247671972476769E07414436
chr107248616572486240E07423882
chr107248642372487309E07424140
chr107248897972489033E07426696
chr107248908272489132E07426799
chr107248918972489243E07426906
chr107248929472489354E07427011
chr107248937272489589E07427089
chr107248960172489852E07427318
chr107248985672489989E07427573
chr107248999572490142E07427712
chr107250222772502905E07439944
chr107242381372425106E081-37177
chr107243409172434253E081-28030
chr107243430072434412E081-27871
chr107243448672434593E081-27690
chr107243470072434848E081-27435
chr107243487872435018E081-27265
chr107243531272435484E081-26799
chr107243820572438259E081-24024
chr107243842572438484E081-23799
chr107243851972438599E081-23684
chr107243872972438792E081-23491
chr107243883372438873E081-23410
chr107243890472439356E081-22927
chr107243935972439776E081-22507
chr107244034972440444E081-21839
chr107244081372440863E081-21420
chr107244087672440926E081-21357
chr107244095872440998E081-21285
chr107244131072441495E081-20788
chr107244175172441951E081-20332
chr107244281072442860E081-19423
chr107244290072443181E081-19102
chr107244319972443338E081-18945
chr107244339272443605E081-18678
chr107244363472443748E081-18535
chr107244379372443856E081-18427
chr107244388372443999E081-18284
chr107244417072444247E081-18036
chr107244427172444311E081-17972
chr107244451772444621E081-17662
chr107244483372444889E081-17394
chr107244491372445137E081-17146
chr107244516072445576E081-16707
chr107244940472449454E081-12829
chr107244946672449703E081-12580
chr107244976872449859E081-12424
chr107245032972450395E081-11888
chr107245050472450683E081-11600
chr107245077472450857E081-11426
chr107245335272455311E081-6972
chr107245544972455653E081-6630
chr107245569372455773E081-6510
chr107245713072457239E081-5044
chr107245752972457569E081-4714
chr107245778572457838E081-4445
chr107245800972458303E081-3980
chr107245833472458385E081-3898
chr107246185772461949E081-334
chr107246204772462152E081-131
chr107246221572462275E081-8
chr107248960172489852E08127318
chr107248985672489989E08127573
chr107248999572490142E08127712
chr107249061472490694E08128331
chr107250611872506245E08143835
chr107250631572506454E08144032
chr107250651272506611E08144229
chr107250668272507006E08144399
chr107250700972507059E08144726
chr107250726772507518E08144984
chr107250756172507611E08145278
chr107250767572507725E08145392
chr107250774172507791E08145458
chr107250797472508061E08145691
chr107250831972508363E08146036
chr107243890472439356E082-22927
chr107243935972439776E082-22507
chr107244131072441495E082-20788
chr107244281072442860E082-19423
chr107244290072443181E082-19102
chr107244319972443338E082-18945
chr107244339272443605E082-18678
chr107244363472443748E082-18535
chr107244379372443856E082-18427
chr107244417072444247E082-18036
chr107244427172444311E082-17972
chr107244451772444621E082-17662
chr107244483372444889E082-17394
chr107244491372445137E082-17146
chr107245032972450395E082-11888
chr107245050472450683E082-11600
chr107245713072457239E082-5044
chr107245752972457569E082-4714
chr107245778572457838E082-4445
chr107245800972458303E082-3980
chr107245833472458385E082-3898
chr107248918972489243E08226906
chr107248929472489354E08227011
chr107248937272489589E08227089
chr107248960172489852E08227318
chr107248985672489989E08227573
chr107248999572490142E08227712
chr107250631572506454E08244032
chr107250651272506611E08244229
chr107250668272507006E08244399
chr107250700972507059E08244726
chr107250726772507518E08244984
chr107250756172507611E08245278
chr107250767572507725E08245392
chr107250774172507791E08245458
chr107250797472508061E08245691
chr107250831972508363E08246036










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr107243148772434022E067-28261
chr107243148772434022E068-28261
chr107243148772434022E071-28261
chr107243148772434022E072-28261
chr107243148772434022E073-28261
chr107243148772434022E074-28261
chr107243148772434022E082-28261