rs13190673

Homo sapiens
C>A
ITK : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0150 (4517/29942,GnomAD)
A=0136 (3978/29118,TOPMED)
A=0108 (539/5008,1000G)
A=0191 (738/3854,ALSPAC)
A=0187 (693/3708,TWINSUK)
chr5:157244863 (GRCh38.p7) (5q33.3)
AD
GWASdb2
1   publication(s)
See rs on genome
116 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.157244863C>A
GRCh37.p13 chr 5NC_000005.9:g.156671873C>A
ITK RefSeqGene LRG_189

Gene: ITK, IL2 inducible T-cell kinase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ITK transcriptNM_005546.3:c.N/AIntron Variant
ITK transcript variant X1XM_017009443.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.921A=0.079
1000GenomesAmericanSub694C=0.770A=0.230
1000GenomesEast AsianSub1008C=0.999A=0.001
1000GenomesEuropeSub1006C=0.807A=0.193
1000GenomesGlobalStudy-wide5008C=0.892A=0.108
1000GenomesSouth AsianSub978C=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.809A=0.191
The Genome Aggregation DatabaseAfricanSub8714C=0.909A=0.091
The Genome Aggregation DatabaseAmericanSub836C=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1622C=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18468C=0.812A=0.187
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.849A=0.150
The Genome Aggregation DatabaseOtherSub302C=0.810A=0.190
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.863A=0.136
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.813A=0.187
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs131906730.000921alcohol dependence20201924

eQTL of rs13190673 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 rs13190673 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 )
chr5156681027156681067E0679154
chr5156695842156697259E06723969
chr5156697279156697365E06725406
chr5156698022156698146E06726149
chr5156706778156706873E06734905
chr5156706903156706953E06735030
chr5156706958156707008E06735085
chr5156708052156708241E06736179
chr5156709479156709612E06737606
chr5156709767156709874E06737894
chr5156710039156710089E06738166
chr5156710202156710457E06738329
chr5156710464156710757E06738591
chr5156711548156711729E06739675
chr5156716965156718002E06745092
chr5156697920156697970E06826047
chr5156698022156698146E06826149
chr5156698221156698261E06826348
chr5156698268156698486E06826395
chr5156698536156699752E06826663
chr5156705394156705565E06833521
chr5156706778156706873E06834905
chr5156706903156706953E06835030
chr5156706958156707008E06835085
chr5156708052156708241E06836179
chr5156709767156709874E06837894
chr5156710039156710089E06838166
chr5156710202156710457E06838329
chr5156710464156710757E06838591
chr5156710886156711001E06839013
chr5156711548156711729E06839675
chr5156712661156712932E06840788
chr5156713787156714195E06841914
chr5156716965156718002E06845092
chr5156718108156718790E06846235
chr5156697279156697365E06925406
chr5156697920156697970E06926047
chr5156698022156698146E06926149
chr5156698221156698261E06926348
chr5156698268156698486E06926395
chr5156698536156699752E06926663
chr5156706778156706873E06934905
chr5156706903156706953E06935030
chr5156706958156707008E06935085
chr5156708052156708241E06936179
chr5156695842156697259E07023969
chr5156697279156697365E07025406
chr5156712378156712551E07040505
chr5156712661156712932E07040788
chr5156681027156681067E0719154
chr5156695842156697259E07123969
chr5156697279156697365E07125406
chr5156697920156697970E07126047
chr5156698022156698146E07126149
chr5156698221156698261E07126348
chr5156698268156698486E07126395
chr5156698536156699752E07126663
chr5156706778156706873E07134905
chr5156706903156706953E07135030
chr5156706958156707008E07135085
chr5156708052156708241E07136179
chr5156710039156710089E07138166
chr5156710202156710457E07138329
chr5156710464156710757E07138591
chr5156710886156711001E07139013
chr5156712378156712551E07140505
chr5156713787156714195E07141914
chr5156695842156697259E07223969
chr5156697279156697365E07225406
chr5156697920156697970E07226047
chr5156698022156698146E07226149
chr5156698221156698261E07226348
chr5156698268156698486E07226395
chr5156698536156699752E07226663
chr5156710039156710089E07238166
chr5156710202156710457E07238329
chr5156710464156710757E07238591
chr5156711548156711729E07239675
chr5156712378156712551E07240505
chr5156695842156697259E07323969
chr5156697279156697365E07325406
chr5156697920156697970E07326047
chr5156698022156698146E07326149
chr5156698221156698261E07326348
chr5156698268156698486E07326395
chr5156698536156699752E07326663
chr5156706778156706873E07334905
chr5156706903156706953E07335030
chr5156706958156707008E07335085
chr5156710202156710457E07338329
chr5156710464156710757E07338591
chr5156710886156711001E07339013
chr5156712378156712551E07340505
chr5156712661156712932E07340788
chr5156695842156697259E07423969
chr5156697279156697365E07425406
chr5156697920156697970E07426047
chr5156698022156698146E07426149
chr5156698221156698261E07426348
chr5156698268156698486E07426395
chr5156706903156706953E07435030
chr5156713787156714195E07441914
chr5156714549156714647E07442676
chr5156691706156691818E08119833
chr5156695842156697259E08123969
chr5156697279156697365E08125406
chr5156711548156711729E08139675
chr5156712378156712551E08140505
chr5156712661156712932E08140788
chr5156695842156697259E08223969
chr5156697279156697365E08225406
chr5156704381156704507E08232508
chr5156704540156704972E08232667
chr5156711548156711729E08239675
chr5156712378156712551E08240505
chr5156712661156712932E08240788










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5156692334156694302E06720461
chr5156692334156694302E06820461
chr5156692334156694302E06920461
chr5156692334156694302E07020461
chr5156692334156694302E07120461
chr5156692334156694302E07220461
chr5156692334156694302E07320461
chr5156692334156694302E07420461
chr5156692334156694302E08120461
chr5156692334156694302E08220461