rs12997019

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0095 (2867/29952,GnomAD)
C=0114 (3323/29116,TOPMED)
C=0084 (420/5008,1000G)
C=0059 (227/3854,ALSPAC)
C=0060 (223/3708,TWINSUK)
chr2:38455577 (GRCh38.p7) (2p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.38455577T>C
GRCh37.p13 chr 2NC_000002.11:g.38682719T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.780C=0.220
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.926C=0.074
1000GenomesGlobalStudy-wide5008T=0.916C=0.084
1000GenomesSouth AsianSub978T=0.990C=0.010
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.941C=0.059
The Genome Aggregation DatabaseAfricanSub8714T=0.815C=0.185
The Genome Aggregation DatabaseAmericanSub838T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1618T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18480T=0.935C=0.064
The Genome Aggregation DatabaseGlobalStudy-wide29952T=0.904C=0.095
The Genome Aggregation DatabaseOtherSub302T=0.950C=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29116T=0.885C=0.114
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.940C=0.060
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs129970190.00034alcohol dependence21314694

eQTL of rs12997019 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 rs12997019 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 )
chr23864491838645696E067-37023
chr23864570438645766E067-36953
chr23866502938665080E067-17639
chr23866527038665670E067-17049
chr23866961838669674E067-13045
chr23866985638670775E067-11944
chr23863335038633401E068-49318
chr23863346238633576E068-49143
chr23863361838634860E068-47859
chr23863613238636185E068-46534
chr23864491838645696E068-37023
chr23864570438645766E068-36953
chr23866502938665080E068-17639
chr23866527038665670E068-17049
chr23866613838666318E068-16401
chr23866635238666420E068-16299
chr23866649038666648E068-16071
chr23866961838669674E068-13045
chr23866985638670775E068-11944
chr23867078838671932E068-10787
chr23867371538673870E068-8849
chr23872373638723845E06841017
chr23872405138724201E06841332
chr23872433938724780E06841620
chr23872490238725088E06842183
chr23872532638725657E06842607
chr23863335038633401E069-49318
chr23863346238633576E069-49143
chr23863361838634860E069-47859
chr23863504838635195E069-47524
chr23864491838645696E069-37023
chr23864570438645766E069-36953
chr23866527038665670E069-17049
chr23866613838666318E069-16401
chr23866783438668352E069-14367
chr23866840038668554E069-14165
chr23866961838669674E069-13045
chr23866985638670775E069-11944
chr23869285038693286E06910131
chr23869371838693789E06910999
chr23869387138693962E06911152
chr23869407638694320E06911357
chr23869433438694413E06911615
chr23866985638670775E070-11944
chr23863335038633401E071-49318
chr23863346238633576E071-49143
chr23866502938665080E071-17639
chr23866527038665670E071-17049
chr23866613838666318E071-16401
chr23866635238666420E071-16299
chr23866649038666648E071-16071
chr23866700038667303E071-15416
chr23866961838669674E071-13045
chr23866985638670775E071-11944
chr23867371538673870E071-8849
chr23869387138693962E07111152
chr23869407638694320E07111357
chr23872405138724201E07141332
chr23872433938724780E07141620
chr23863335038633401E072-49318
chr23863346238633576E072-49143
chr23864491838645696E072-37023
chr23866527038665670E072-17049
chr23866613838666318E072-16401
chr23866635238666420E072-16299
chr23866649038666648E072-16071
chr23866961838669674E072-13045
chr23866985638670775E072-11944
chr23867078838671932E072-10787
chr23869285038693286E07210131
chr23864491838645696E073-37023
chr23867371538673870E073-8849
chr23871347938713638E07330760
chr23871373138713886E07331012
chr23871392938714128E07331210
chr23872373638723845E07341017
chr23872405138724201E07341332
chr23872433938724780E07341620
chr23864491838645696E074-37023
chr23864570438645766E074-36953
chr23866502938665080E074-17639
chr23866527038665670E074-17049
chr23866613838666318E074-16401
chr23866635238666420E074-16299
chr23866649038666648E074-16071
chr23866700038667303E074-15416
chr23866840038668554E074-14165
chr23869407638694320E07411357
chr23869433438694413E07411615
chr23872405138724201E07441332
chr23872433938724780E07441620
chr23866868038668721E081-13998
chr23866933838669388E081-13331
chr23866961838669674E081-13045
chr23866985638670775E081-11944
chr23867078838671932E081-10787
chr23869371838693789E08110999
chr23869387138693962E08111152
chr23869407638694320E08111357
chr23866933838669388E082-13331
chr23866961838669674E082-13045
chr23867078838671932E082-10787