rs17807815

Homo sapiens
T>C
ATXN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0070 (2103/29988,GnomAD)
C=0061 (1775/29118,TOPMED)
C=0065 (326/5008,1000G)
C=0102 (395/3854,ALSPAC)
C=0102 (380/3708,TWINSUK)
chr14:92089711 (GRCh38.p7) (14q32.12)
AD
GWASdb2
1   publication(s)
See rs on genome
127 Enhancers around
43 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.92089711T>C
GRCh37.p13 chr 14NC_000014.8:g.92556055T>C
ATXN3 RefSeqGeneNG_008198.2:g.21911A>G

Gene: ATXN3, ataxin 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ATXN3 transcript variant adNM_001127696.1:c.N/AIntron Variant
ATXN3 transcript variant eNM_001127697.2:c.N/AIntron Variant
ATXN3 transcript variant bNM_001164774.1:c.N/AIntron Variant
ATXN3 transcript variant gNM_001164776.1:c.N/AIntron Variant
ATXN3 transcript variant jNM_001164777.1:c.N/AIntron Variant
ATXN3 transcript variant oNM_001164778.1:c.N/AIntron Variant
ATXN3 transcript variant rNM_001164779.1:c.N/AIntron Variant
ATXN3 transcript variant uNM_001164780.1:c.N/AIntron Variant
ATXN3 transcript variant yNM_001164781.1:c.N/AIntron Variant
ATXN3 transcript variant aeNM_001164782.1:c.N/AIntron Variant
ATXN3 transcript variant referenceNM_004993.5:c.N/AIntron Variant
ATXN3 transcript variant hNM_030660.4:c.N/AIntron Variant
ATXN3 transcript variant aNR_028453.1:n.N/AIntron Variant
ATXN3 transcript variant dNR_028454.1:n.N/AIntron Variant
ATXN3 transcript variant fNR_028455.1:n.N/AIntron Variant
ATXN3 transcript variant iNR_028456.1:n.N/AIntron Variant
ATXN3 transcript variant kNR_028457.1:n.N/AIntron Variant
ATXN3 transcript variant lNR_028458.1:n.N/AIntron Variant
ATXN3 transcript variant mNR_028459.1:n.N/AIntron Variant
ATXN3 transcript variant nNR_028460.1:n.N/AIntron Variant
ATXN3 transcript variant pNR_028461.1:n.N/AIntron Variant
ATXN3 transcript variant qNR_028462.1:n.N/AIntron Variant
ATXN3 transcript variant tNR_028463.1:n.N/AIntron Variant
ATXN3 transcript variant vNR_028464.1:n.N/AIntron Variant
ATXN3 transcript variant wNR_028465.1:n.N/AIntron Variant
ATXN3 transcript variant xNR_028466.1:n.N/AIntron Variant
ATXN3 transcript variant zNR_028467.1:n.N/AIntron Variant
ATXN3 transcript variant acNR_028468.1:n.N/AIntron Variant
ATXN3 transcript variant afNR_028469.1:n.N/AIntron Variant
ATXN3 transcript variant amNR_028470.1:n.N/AIntron Variant
ATXN3 transcript variant cNR_031765.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.994C=0.006
1000GenomesAmericanSub694T=0.860C=0.140
1000GenomesEast AsianSub1008T=0.974C=0.026
1000GenomesEuropeSub1006T=0.887C=0.113
1000GenomesGlobalStudy-wide5008T=0.935C=0.065
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.898C=0.102
The Genome Aggregation DatabaseAfricanSub8732T=0.978C=0.022
The Genome Aggregation DatabaseAmericanSub838T=0.860C=0.140
The Genome Aggregation DatabaseEast AsianSub1618T=0.976C=0.024
The Genome Aggregation DatabaseEuropeSub18498T=0.906C=0.093
The Genome Aggregation DatabaseGlobalStudy-wide29988T=0.929C=0.070
The Genome Aggregation DatabaseOtherSub302T=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.939C=0.061
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.898C=0.102
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
rs178078150.000348alcohol dependence21314694

eQTL of rs17807815 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 rs17807815 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 )
chr149252403092524218E067-31837
chr149252428192524367E067-31688
chr149252440392524664E067-31391
chr149256888592568992E06712830
chr149258537792585427E06729322
chr149258557792585657E06729522
chr149258579192585863E06729736
chr149258595692586005E06729901
chr149258639692586648E06730341
chr149258972792589771E06733672
chr149259002792590081E06733972
chr149259009392590256E06734038
chr149259028192590388E06734226
chr149259039592590518E06734340
chr149259064292590711E06734587
chr149259082592590875E06734770
chr149259095792591007E06734902
chr149257444492574660E06818389
chr149257470392575154E06818648
chr149258537792585427E06829322
chr149258557792585657E06829522
chr149258579192585863E06829736
chr149258639692586648E06830341
chr149258671092586770E06830655
chr149258972792589771E06833672
chr149259028192590388E06834226
chr149259039592590518E06834340
chr149259064292590711E06834587
chr149259082592590875E06834770
chr149259095792591007E06834902
chr149259129692591393E06835241
chr149259140092591463E06835345
chr149259170092591740E06835645
chr149250773292507878E069-48177
chr149258671092586770E06930655
chr149258972792589771E06933672
chr149259002792590081E06933972
chr149259009392590256E06934038
chr149259028192590388E06934226
chr149259039592590518E06934340
chr149259064292590711E06934587
chr149259082592590875E06934770
chr149259095792591007E06934902
chr149250773292507878E070-48177
chr149256888592568992E07012830
chr149256900292569083E07012947
chr149256956892569728E07013513
chr149256990892569986E07013853
chr149257009092570152E07014035
chr149257032292570362E07014267
chr149257072992570855E07014674
chr149258972792589771E07033672
chr149259002792590081E07033972
chr149259009392590256E07034038
chr149259028192590388E07034226
chr149259039592590518E07034340
chr149259064292590711E07034587
chr149252403092524218E071-31837
chr149252428192524367E071-31688
chr149252440392524664E071-31391
chr149258639692586648E07130341
chr149258671092586770E07130655
chr149258972792589771E07133672
chr149259002792590081E07133972
chr149259009392590256E07134038
chr149259028192590388E07134226
chr149259039592590518E07134340
chr149259424692594423E07138191
chr149259451692594560E07138461
chr149259484992594928E07138794
chr149252440392524664E072-31391
chr149252497792525109E072-30946
chr149258972792589771E07233672
chr149259002792590081E07233972
chr149259009392590256E07234038
chr149259028192590388E07234226
chr149259039592590518E07234340
chr149259064292590711E07234587
chr149259082592590875E07234770
chr149259095792591007E07234902
chr149250773292507878E073-48177
chr149252403092524218E073-31837
chr149252428192524367E073-31688
chr149252440392524664E073-31391
chr149252497792525109E073-30946
chr149256888592568992E07312830
chr149256900292569083E07312947
chr149256990892569986E07313853
chr149257009092570152E07314035
chr149258972792589771E07333672
chr149259002792590081E07333972
chr149250773292507878E074-48177
chr149252440392524664E074-31391
chr149256636792566486E07410312
chr149256649292566653E07410437
chr149256670492566878E07410649
chr149258639692586648E07430341
chr149258671092586770E07430655
chr149258972792589771E07433672
chr149259002792590081E07433972
chr149259009392590256E07434038
chr149259028192590388E07434226
chr149259039592590518E07434340
chr149259064292590711E07434587
chr149250773292507878E081-48177
chr149257072992570855E08114674
chr149258671092586770E08130655
chr149258972792589771E08133672
chr149259002792590081E08133972
chr149259009392590256E08134038
chr149250773292507878E082-48177
chr149256888592568992E08212830
chr149256900292569083E08212947
chr149256990892569986E08213853
chr149257009092570152E08214035
chr149257032292570362E08214267
chr149258972792589771E08233672
chr149259002792590081E08233972
chr149259009392590256E08234038
chr149259028192590388E08234226
chr149259039592590518E08234340
chr149259064292590711E08234587
chr149259082592590875E08234770
chr149259095792591007E08234902
chr149259129692591393E08235241
chr149259140092591463E08235345
chr149259170092591740E08235645










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr149257189392573419E06715838
chr149258697892587028E06730923
chr149258710092587202E06731045
chr149258735792587421E06731302
chr149258747992589186E06731424
chr149257189392573419E06815838
chr149258697892587028E06830923
chr149258710092587202E06831045
chr149258735792587421E06831302
chr149258747992589186E06831424
chr149257189392573419E06915838
chr149258735792587421E06931302
chr149258747992589186E06931424
chr149257189392573419E07015838
chr149258710092587202E07031045
chr149258735792587421E07031302
chr149258747992589186E07031424
chr149257189392573419E07115838
chr149258697892587028E07130923
chr149258710092587202E07131045
chr149258735792587421E07131302
chr149258747992589186E07131424
chr149257189392573419E07215838
chr149258710092587202E07231045
chr149258735792587421E07231302
chr149258747992589186E07231424
chr149257189392573419E07315838
chr149258697892587028E07330923
chr149258710092587202E07331045
chr149258735792587421E07331302
chr149258747992589186E07331424
chr149257189392573419E07415838
chr149258710092587202E07431045
chr149258735792587421E07431302
chr149258747992589186E07431424
chr149258710092587202E08131045
chr149258735792587421E08131302
chr149258747992589186E08131424
chr149257189392573419E08215838
chr149258697892587028E08230923
chr149258710092587202E08231045
chr149258735792587421E08231302
chr149258747992589186E08231424