rs59972978

Homo sapiens
A>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0186 (5588/29956,GnomAD)
T=0140 (4092/29118,TOPMED)
T=0201 (1008/5008,1000G)
T=0182 (702/3854,ALSPAC)
T=0183 (678/3708,TWINSUK)
chr20:57483299 (GRCh38.p7) (20q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.57483299A>T
GRCh37.p13 chr 20NC_000020.10:g.56058355A>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.994T=0.006
1000GenomesAmericanSub694A=0.610T=0.390
1000GenomesEast AsianSub1008A=0.671T=0.329
1000GenomesEuropeSub1006A=0.837T=0.163
1000GenomesGlobalStudy-wide5008A=0.799T=0.201
1000GenomesSouth AsianSub978A=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.818T=0.182
The Genome Aggregation DatabaseAfricanSub8722A=0.962T=0.038
The Genome Aggregation DatabaseAmericanSub834A=0.590T=0.410
The Genome Aggregation DatabaseEast AsianSub1620A=0.669T=0.331
The Genome Aggregation DatabaseEuropeSub18478A=0.765T=0.234
The Genome Aggregation DatabaseGlobalStudy-wide29956A=0.813T=0.186
The Genome Aggregation DatabaseOtherSub302A=0.830T=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.859T=0.140
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.817T=0.183
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs599729785E-06alcohol consumption23743675

eQTL of rs59972978 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 rs59972978 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 )
chr205601021856011410E067-46945
chr205601147056011640E067-46715
chr205601448156014865E067-43490
chr205601491356015240E067-43115
chr205601536056015745E067-42610
chr205601577956016994E067-41361
chr205603282556033094E067-25261
chr205604380356045822E067-12533
chr205606942656069749E06711071
chr205606976656069846E06711411
chr205607003556070693E06711680
chr205608894856089740E06730593
chr205608974456089784E06731389
chr205600988756010013E068-48342
chr205601013956010210E068-48145
chr205601021856011410E068-46945
chr205601147056011640E068-46715
chr205601448156014865E068-43490
chr205601491356015240E068-43115
chr205601536056015745E068-42610
chr205601577956016994E068-41361
chr205602654956026699E068-31656
chr205602679956027565E068-30790
chr205603236656032784E068-25571
chr205603282556033094E068-25261
chr205603368256033768E068-24587
chr205603383356034267E068-24088
chr205603440956034506E068-23849
chr205603452156034586E068-23769
chr205604270756043195E068-15160
chr205608894856089740E06830593
chr205608974456089784E06831389
chr205601021856011410E069-46945
chr205601147056011640E069-46715
chr205601380056013976E069-44379
chr205601398356014119E069-44236
chr205601436256014447E069-43908
chr205601448156014865E069-43490
chr205601491356015240E069-43115
chr205601536056015745E069-42610
chr205601577956016994E069-41361
chr205601700756017188E069-41167
chr205601727156017477E069-40878
chr205602654956026699E069-31656
chr205602679956027565E069-30790
chr205603236656032784E069-25571
chr205603282556033094E069-25261
chr205603368256033768E069-24587
chr205600907856009357E070-48998
chr205600936356009816E070-48539
chr205600988756010013E070-48342
chr205601013956010210E070-48145
chr205601021856011410E070-46945
chr205601577956016994E070-41361
chr205604240756042484E070-15871
chr205604258156042659E070-15696
chr205604270756043195E070-15160
chr205604380356045822E070-12533
chr205604582956045985E070-12370
chr205604599656046092E070-12263
chr205604615356046210E070-12145
chr205604621256046388E070-11967
chr205607600856076171E07017653
chr205607617456076292E07017819
chr205607642756076873E07018072
chr205608077156080861E07022416
chr205608110856081312E07022753
chr205609822356098289E07039868
chr205600845656008559E071-49796
chr205600861356009031E071-49324
chr205600907856009357E071-48998
chr205600936356009816E071-48539
chr205600988756010013E071-48342
chr205601013956010210E071-48145
chr205601147056011640E071-46715
chr205601327856013795E071-44560
chr205601380056013976E071-44379
chr205601398356014119E071-44236
chr205601425956014299E071-44056
chr205601436256014447E071-43908
chr205601448156014865E071-43490
chr205601491356015240E071-43115
chr205601536056015745E071-42610
chr205601577956016994E071-41361
chr205601700756017188E071-41167
chr205601727156017477E071-40878
chr205603200356032302E071-26053
chr205603236656032784E071-25571
chr205603282556033094E071-25261
chr205603368256033768E071-24587
chr205603383356034267E071-24088
chr205604240756042484E071-15871
chr205606942656069749E07111071
chr205606976656069846E07111411
chr205608110856081312E07122753
chr205608265356082777E07124298
chr205608303856083078E07124683
chr205608974456089784E07131389
chr205601021856011410E072-46945
chr205601147056011640E072-46715
chr205601327856013795E072-44560
chr205601380056013976E072-44379
chr205601398356014119E072-44236
chr205601491356015240E072-43115
chr205601536056015745E072-42610
chr205601577956016994E072-41361
chr205603236656032784E072-25571
chr205603282556033094E072-25261
chr205608894856089740E07230593
chr205608974456089784E07231389
chr205600845656008559E073-49796
chr205600861356009031E073-49324
chr205601021856011410E073-46945
chr205601147056011640E073-46715
chr205601536056015745E073-42610
chr205601577956016994E073-41361
chr205603282556033094E073-25261
chr205603368256033768E073-24587
chr205603383356034267E073-24088
chr205606942656069749E07311071
chr205606976656069846E07311411
chr205601013956010210E074-48145
chr205601021856011410E074-46945
chr205601147056011640E074-46715
chr205601380056013976E074-44379
chr205601398356014119E074-44236
chr205601425956014299E074-44056
chr205601436256014447E074-43908
chr205601448156014865E074-43490
chr205601491356015240E074-43115
chr205601536056015745E074-42610
chr205601577956016994E074-41361
chr205601700756017188E074-41167
chr205602526756026422E074-31933
chr205602642756026539E074-31816
chr205602654956026699E074-31656
chr205603236656032784E074-25571
chr205603282556033094E074-25261
chr205608894856089740E07430593
chr205608974456089784E07431389
chr205601327856013795E081-44560
chr205601448156014865E081-43490
chr205601491356015240E081-43115
chr205601536056015745E081-42610
chr205601577956016994E081-41361
chr205603282556033094E081-25261
chr205603368256033768E081-24587
chr205603383356034267E081-24088
chr205603440956034506E081-23849
chr205603452156034586E081-23769
chr205603461156034677E081-23678
chr205603480356034853E081-23502
chr205601021856011410E082-46945
chr205601536056015745E082-42610
chr205601577956016994E082-41361
chr205603236656032784E082-25571