rs12548368

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0206 (6179/29932,GnomAD)
G=0238 (6933/29118,TOPMED)
G=0177 (886/5008,1000G)
G=0194 (748/3854,ALSPAC)
G=0198 (735/3708,TWINSUK)
chr8:41116048 (GRCh38.p7) (8p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
96 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.41116048A>G
GRCh37.p13 chr 8NC_000008.10:g.40973567A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.701G=0.299
1000GenomesAmericanSub694A=0.800G=0.200
1000GenomesEast AsianSub1008A=0.951G=0.049
1000GenomesEuropeSub1006A=0.814G=0.186
1000GenomesGlobalStudy-wide5008A=0.823G=0.177
1000GenomesSouth AsianSub978A=0.880G=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.806G=0.194
The Genome Aggregation DatabaseAfricanSub8710A=0.700G=0.300
The Genome Aggregation DatabaseAmericanSub838A=0.830G=0.170
The Genome Aggregation DatabaseEast AsianSub1622A=0.957G=0.043
The Genome Aggregation DatabaseEuropeSub18460A=0.820G=0.179
The Genome Aggregation DatabaseGlobalStudy-wide29932A=0.793G=0.206
The Genome Aggregation DatabaseOtherSub302A=0.840G=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.761G=0.238
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.802G=0.198
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs125483685.68E-05alcohol dependence21703634

eQTL of rs12548368 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 rs12548368 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 )
chr84095664640956823E067-16744
chr84095693340956983E067-16584
chr84095843640959066E067-14501
chr84101535141017103E06741784
chr84101883241019977E06745265
chr84095637340956547E068-17020
chr84095664640956823E068-16744
chr84095693340956983E068-16584
chr84095787740958229E068-15338
chr84095843640959066E068-14501
chr84098310640983258E0689539
chr84098334640983565E0689779
chr84098356640983966E0689999
chr84101535141017103E06841784
chr84095637340956547E069-17020
chr84095664640956823E069-16744
chr84095693340956983E069-16584
chr84095713640957193E069-16374
chr84095728840957389E069-16178
chr84095787740958229E069-15338
chr84095843640959066E069-14501
chr84098356640983966E0699999
chr84100364241004576E06930075
chr84101453841014650E06940971
chr84101479941014926E06941232
chr84101496541015191E06941398
chr84101520341015290E06941636
chr84101535141017103E06941784
chr84093498740935164E070-38403
chr84093525540935870E070-37697
chr84093612640936318E070-37249
chr84093634140936403E070-37164
chr84093649640936624E070-36943
chr84093688640937001E070-36566
chr84093751340937563E070-36004
chr84101883241019977E07045265
chr84095637340956547E071-17020
chr84095664640956823E071-16744
chr84095693340956983E071-16584
chr84095713640957193E071-16374
chr84095728840957389E071-16178
chr84095787740958229E071-15338
chr84095843640959066E071-14501
chr84095920640959298E071-14269
chr84095956740959617E071-13950
chr84097344940973538E071-29
chr84097360040973654E07133
chr84097374640973915E071179
chr84098310640983258E0719539
chr84098334640983565E0719779
chr84098356640983966E0719999
chr84101453841014650E07140971
chr84101479941014926E07141232
chr84101496541015191E07141398
chr84101520341015290E07141636
chr84101535141017103E07141784
chr84101883241019977E07145265
chr84094104740941097E072-32470
chr84094110140941225E072-32342
chr84095664640956823E072-16744
chr84095693340956983E072-16584
chr84095713640957193E072-16374
chr84095728840957389E072-16178
chr84095787740958229E072-15338
chr84095843640959066E072-14501
chr84095664640956823E073-16744
chr84095693340956983E073-16584
chr84095713640957193E073-16374
chr84095728840957389E073-16178
chr84095637340956547E074-17020
chr84095664640956823E074-16744
chr84095693340956983E074-16584
chr84095713640957193E074-16374
chr84095728840957389E074-16178
chr84095787740958229E074-15338
chr84095843640959066E074-14501
chr84095920640959298E074-14269
chr84095956740959617E074-13950
chr84096011640960263E074-13304
chr84096026440960595E074-12972
chr84100364241004576E07430075
chr84101479941014926E07441232
chr84101496541015191E07441398
chr84101520341015290E07441636
chr84101535141017103E07441784
chr84095637340956547E081-17020
chr84095664640956823E081-16744
chr84095693340956983E081-16584
chr84101883241019977E08145265
chr84093498740935164E082-38403
chr84093525540935870E082-37697
chr84093612640936318E082-37249
chr84093634140936403E082-37164
chr84093649640936624E082-36943
chr84093751340937563E082-36004
chr84101883241019977E08245265