rs75433892

Homo sapiens
G>A
GNAL : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0002 (59/29986,GnomAD)
A=0000 (6/29118,TOPMED)
A=0007 (33/5008,1000G)
chr18:11712923 (GRCh38.p7) (18p11.21)
AD
GWASCatalog
1   publication(s)
See rs on genome
60 Enhancers around
45 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.11712923G>A
GRCh37.p13 chr 18NC_000018.9:g.11712922G>A
GNAL RefSeqGeneNG_033866.1:g.28909G>A

Gene: GNAL, G protein subunit alpha L(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GNAL transcript variant 1NM_182978.3:c.N/AIntron Variant
GNAL transcript variant 3NM_001142339.2:c.N/AGenic Upstream Transcript Variant
GNAL transcript variant 4NM_001261443.1:c.N/AGenic Upstream Transcript Variant
GNAL transcript variant 5NM_001261444.1:c.N/AGenic Upstream Transcript Variant
GNAL transcript variant X1XM_006722324.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=1.000A=0.000
1000GenomesAmericanSub694G=1.000A=0.000
1000GenomesEast AsianSub1008G=0.967A=0.033
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.993A=0.007
1000GenomesSouth AsianSub978G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8732G=1.000A=0.000
The Genome Aggregation DatabaseAmericanSub838G=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1622G=0.964A=0.036
The Genome Aggregation DatabaseEuropeSub18492G=1.000A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29986G=0.998A=0.002
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.999A=0.000
PMID Title Author Journal
26365420The genetics of alcohol dependence: Twin and SNP-based heritability, and genome-wide association study based on AUDIT scores.Mbarek HAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs754338922E-06alcohol dependence26365420

eQTL of rs75433892 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 rs75433892 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 )
chr181174101911741114E07028097
chr181173664411736966E07323722
chr181173699411737340E07324072
chr181173771711737834E07324795
chr181167805611678289E081-34633
chr181167833911678512E081-34410
chr181167867711678838E081-34084
chr181171977211719822E0816850
chr181171992111720010E0816999
chr181172321311723534E08110291
chr181172378211723822E08110860
chr181172456611724791E08111644
chr181172484111725170E08111919
chr181172531611725377E08112394
chr181173664411736966E08123722
chr181173699411737340E08124072
chr181173771711737834E08124795
chr181173791311738052E08124991
chr181173848311738525E08125561
chr181173894411738994E08126022
chr181173920411739254E08126282
chr181173935511739405E08126433
chr181173943611739486E08126514
chr181174024211740328E08127320
chr181174041011740535E08127488
chr181174053711740787E08127615
chr181174101911741114E08128097
chr181174144311741576E08128521
chr181174164811741807E08128726
chr181174203211742094E08129110
chr181174218911742266E08129267
chr181174259811742652E08129676
chr181174273611742790E08129814
chr181174283211742886E08129910
chr181174301411743058E08130092
chr181174308411743164E08130162
chr181174317111743308E08130249
chr181174334911743399E08130427
chr181174361311743847E08130691
chr181174400711744079E08131085
chr181174455711744662E08131635
chr181174551211746050E08132590
chr181174708211747171E08134160
chr181174726811747319E08134346
chr181174785411748036E08134932
chr181174807011748179E08135148
chr181167805611678289E082-34633
chr181167833911678512E082-34410
chr181167867711678838E082-34084
chr181167887211678922E082-34000
chr181171992111720010E0826999
chr181172456611724791E08211644
chr181173994611740043E08227024
chr181174024211740328E08227320
chr181174041011740535E08227488
chr181174053711740787E08227615
chr181174259811742652E08229676
chr181174273611742790E08229814
chr181174283211742886E08229910
chr181174824711748302E08235325




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr181168888611689655E067-23267
chr181168968411689986E067-22936
chr181169002411690456E067-22466
chr181175123911752998E06738317
chr181168874111688809E068-24113
chr181168888611689655E068-23267
chr181168968411689986E068-22936
chr181169002411690456E068-22466
chr181175123911752998E06838317
chr181175497111755256E06842049
chr181175574111755808E06842819
chr181175734211757418E06844420
chr181175768911757739E06844767
chr181175805511758109E06845133
chr181168888611689655E069-23267
chr181168968411689986E069-22936
chr181169002411690456E069-22466
chr181175123911752998E06938317
chr181168888611689655E070-23267
chr181168968411689986E070-22936
chr181169002411690456E070-22466
chr181168874111688809E071-24113
chr181168888611689655E071-23267
chr181168968411689986E071-22936
chr181169002411690456E071-22466
chr181175123911752998E07138317
chr181168888611689655E072-23267
chr181168968411689986E072-22936
chr181169002411690456E072-22466
chr181175123911752998E07238317
chr181168888611689655E073-23267
chr181168968411689986E073-22936
chr181169002411690456E073-22466
chr181175123911752998E07338317
chr181168874111688809E074-24113
chr181168888611689655E074-23267
chr181168968411689986E074-22936
chr181169002411690456E074-22466
chr181175123911752998E07438317
chr181169002411690456E081-22466
chr181168874111688809E082-24113
chr181168888611689655E082-23267
chr181168968411689986E082-22936
chr181169002411690456E082-22466
chr181175123911752998E08238317