rs12130571

Homo sapiens
C>A
DAB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0075 (2192/29118,TOPMED)
A=0089 (2334/26004,GnomAD)
A=0110 (553/5008,1000G)
A=0082 (317/3854,ALSPAC)
A=0085 (316/3708,TWINSUK)
chr1:57232328 (GRCh38.p7) (1p32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
37 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.57232328C>A
GRCh37.p13 chr 1NC_000001.10:g.57698001C>A
DAB1 RefSeqGeneNG_046914.1:g.1023212G>T

Gene: DAB1, DAB1, reelin adaptor protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DAB1 transcriptNM_021080.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.909A=0.091
1000GenomesAmericanSub694C=0.950A=0.050
1000GenomesEast AsianSub1008C=0.822A=0.178
1000GenomesEuropeSub1006C=0.922A=0.078
1000GenomesGlobalStudy-wide5008C=0.890A=0.110
1000GenomesSouth AsianSub978C=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.918A=0.082
The Genome Aggregation DatabaseAfricanSub7804C=0.919A=0.081
The Genome Aggregation DatabaseAmericanSub616C=0.940A=0.060
The Genome Aggregation DatabaseEast AsianSub1502C=0.832A=0.168
The Genome Aggregation DatabaseEuropeSub15802C=0.912A=0.087
The Genome Aggregation DatabaseGlobalStudy-wide26004C=0.910A=0.089
The Genome Aggregation DatabaseOtherSub280C=0.890A=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.924A=0.075
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.915A=0.085
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
rs121305710.000878alcohol dependence21314694

eQTL of rs12130571 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 rs12130571 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 )
chr15772288457722958E06724883
chr15772480557724890E06726804
chr15772423957724521E06826238
chr15772480557724890E06826804
chr15772525657725499E06827255
chr15768076457681426E069-16575
chr15772480557724890E06926804
chr15772525657725499E06927255
chr15772480557724890E07026804
chr15772525657725499E07027255
chr15772480557724890E07126804
chr15766391457663964E081-34037
chr15766419857664323E081-33678
chr15766435257664574E081-33427
chr15766760257667749E081-30252
chr15766789757667956E081-30045
chr15766803357668156E081-29845
chr15767154457671678E081-26323
chr15767173757672049E081-25952
chr15767449257674770E081-23231
chr15767485257675179E081-22822
chr15767532457675454E081-22547
chr15771872657718942E08120725
chr15771985157719960E08121850
chr15772423957724521E08126238
chr15772480557724890E08126804
chr15772525657725499E08127255
chr15774142257741627E08143421
chr15767449257674770E082-23231
chr15767485257675179E082-22822
chr15767532457675454E082-22547
chr15771579957715995E08217798
chr15772423957724521E08226238
chr15772480557724890E08226804
chr15772525657725499E08227255
chr15773544757735708E08237446
chr15773647257736512E08238471