rs2024372

Homo sapiens
G>A
UMAD1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0493 (14749/29896,GnomAD)
G==0471 (13722/29118,TOPMED)
A=0436 (2181/5008,1000G)
G==0484 (1866/3854,ALSPAC)
G==0492 (1825/3708,TWINSUK)
chr7:7743288 (GRCh38.p7) (7p21.3)
AD
GWASdb2
1   publication(s)
See rs on genome
140 Enhancers around
26 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.7743288G>A
GRCh37.p13 chr 7NC_000007.13:g.7782919G>A

Gene: UMAD1, UBAP1-MVB12-associated (UMA) domain containing 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UMAD1 transcript variant 1NM_001302348.1:c.N/AIntron Variant
UMAD1 transcript variant 2NM_001302349.1:c.N/AIntron Variant
UMAD1 transcript variant 3NM_001302350.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.427A=0.573
1000GenomesAmericanSub694G=0.630A=0.370
1000GenomesEast AsianSub1008G=0.765A=0.235
1000GenomesEuropeSub1006G=0.508A=0.492
1000GenomesGlobalStudy-wide5008G=0.564A=0.436
1000GenomesSouth AsianSub978G=0.550A=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.484A=0.516
The Genome Aggregation DatabaseAfricanSub8706G=0.420A=0.580
The Genome Aggregation DatabaseAmericanSub832G=0.680A=0.320
The Genome Aggregation DatabaseEast AsianSub1618G=0.767A=0.233
The Genome Aggregation DatabaseEuropeSub18438G=0.495A=0.505
The Genome Aggregation DatabaseGlobalStudy-wide29896G=0.493A=0.506
The Genome Aggregation DatabaseOtherSub302G=0.530A=0.470
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.471A=0.528
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.492A=0.508
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs20243722E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs2024372 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 rs2024372 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 )
chr777346437734777E067-48142
chr777348397735552E067-47367
chr777586617759797E067-23122
chr777729827773218E067-9701
chr778118697812485E06728950
chr778226337822784E06739714
chr777344897734539E068-48380
chr777346437734777E068-48142
chr777348397735552E068-47367
chr777356307735680E068-47239
chr777358267735897E068-47022
chr777359547736736E068-46183
chr777367747736834E068-46085
chr777721227772975E068-9944
chr777729827773218E068-9701
chr777788627778937E068-3982
chr777790147779064E068-3855
chr777791157779183E068-3736
chr777794237779761E068-3158
chr777910917791576E0688172
chr778234737823535E06840554
chr777344897734539E069-48380
chr777346437734777E069-48142
chr777348397735552E069-47367
chr777586617759797E069-23122
chr777729827773218E069-9701
chr777950567795106E06912137
chr777951187795200E06912199
chr778118697812485E06928950
chr778125827812631E06929663
chr778126437812769E06929724
chr777410637741133E070-41786
chr777411997741305E070-41614
chr777413627741477E070-41442
chr777435057743575E070-39344
chr777445277744716E070-38203
chr777448767745169E070-37750
chr777459617746052E070-36867
chr777463067746425E070-36494
chr777465337746623E070-36296
chr777466527746848E070-36071
chr777468987747220E070-35699
chr777480377748104E070-34815
chr777481407748271E070-34648
chr777485057748555E070-34364
chr777485817748631E070-34288
chr777487007748784E070-34135
chr777488357749367E070-33552
chr777494197749523E070-33396
chr777586617759797E070-23122
chr777599157760169E070-22750
chr777603267760493E070-22426
chr777604947760902E070-22017
chr777702287770301E070-12618
chr777711457771211E070-11708
chr777714347771686E070-11233
chr777718007771889E070-11030
chr777719257771975E070-10944
chr777861407786455E0703221
chr778036187803716E07020699
chr778037267803860E07020807
chr778078527807911E07024933
chr778079867808072E07025067
chr778081047808169E07025185
chr778094307809480E07026511
chr778096057809866E07026686
chr778099097810194E07026990
chr778104087810478E07027489
chr778105767810626E07027657
chr778118697812485E07028950
chr778125827812631E07029663
chr778126437812769E07029724
chr778130157813231E07030096
chr778132787813344E07030359
chr778134077813852E07030488
chr778263267826557E07043407
chr778300317830273E07047112
chr778306067830665E07047687
chr778308417831033E07047922
chr778312437831433E07048324
chr778315587831612E07048639
chr778316697832106E07048750
chr778321367832283E07049217
chr778324237832509E07049504
chr778325467832685E07049627
chr777346437734777E071-48142
chr777348397735552E071-47367
chr777445277744716E071-38203
chr777448767745169E071-37750
chr777457517745834E071-37085
chr777459617746052E071-36867
chr777487007748784E071-34135
chr777581847758579E071-24340
chr777720437772093E071-10826
chr777721227772975E071-9944
chr777729827773218E071-9701
chr778125827812631E07129663
chr778226337822784E07139714
chr778234737823535E07140554
chr777466527746848E072-36071
chr777468987747220E072-35699
chr777581847758579E072-24340
chr777586617759797E072-23122
chr777687527768834E072-14085
chr777688877768958E072-13961
chr777348397735552E073-47367
chr778079867808072E07325067
chr778081047808169E07325185
chr777348397735552E074-47367
chr777445277744716E074-38203
chr777463067746425E074-36494
chr777465337746623E074-36296
chr777466527746848E074-36071
chr777468987747220E074-35699
chr777586617759797E074-23122
chr777687527768834E074-14085
chr777688877768958E074-13961
chr777720437772093E074-10826
chr777721227772975E074-9944
chr777729827773218E074-9701
chr777788627778937E074-3982
chr777790147779064E074-3855
chr777791157779183E074-3736
chr777794237779761E074-3158
chr777952087795353E07412289
chr777956647795714E07412745
chr778118697812485E07428950
chr778125827812631E07429663
chr778126437812769E07429724
chr777463067746425E081-36494
chr777465337746623E081-36296
chr777466527746848E081-36071
chr777468987747220E081-35699
chr777463067746425E082-36494
chr777465337746623E082-36296
chr777466527746848E082-36071
chr777468987747220E082-35699
chr777474197747876E082-35043
chr777478807747985E082-34934
chr777861407786455E0823221










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr778013867802484E06718467
chr778230757823129E06740156
chr778231487823236E06740229
chr778013867802484E06818467
chr778025907802667E06819671
chr778228077822873E06839888
chr778230757823129E06840156
chr778231487823236E06840229
chr778228077822873E06939888
chr778230757823129E06940156
chr778231487823236E06940229
chr778230757823129E07040156
chr778231487823236E07040229
chr778013867802484E07118467
chr778228077822873E07139888
chr778230757823129E07140156
chr778231487823236E07140229
chr778013867802484E07218467
chr778228077822873E07239888
chr778230757823129E07240156
chr778231487823236E07240229
chr778013867802484E07318467
chr778013867802484E07418467
chr778228077822873E07439888
chr778230757823129E07440156
chr778231487823236E07440229