rs2372644

Homo sapiens
T>G
ANKS1B : Intron Variant
LOC101928937 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0340 (10210/29958,GnomAD)
G=0253 (7387/29118,TOPMED)
G=0381 (1908/5008,1000G)
G=0405 (1560/3854,ALSPAC)
G=0397 (1473/3708,TWINSUK)
chr12:99096982 (GRCh38.p7) (12q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.99096982T>G
GRCh37.p13 chr 12NC_000012.11:g.99490760T>G
ANKS1B RefSeqGeneNG_029860.1:g.892673A>C

Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ANKS1B transcript variant 5NM_001204066.1:c.N/AIntron Variant
ANKS1B transcript variant 6NM_001204067.1:c.N/AIntron Variant
ANKS1B transcript variant 7NM_001204068.1:c.N/AIntron Variant
ANKS1B transcript variant 8NM_001204069.1:c.N/AIntron Variant
ANKS1B transcript variant 9NM_001204070.1:c.N/AIntron Variant
ANKS1B transcript variant 3NM_020140.3:c.N/AIntron Variant
ANKS1B transcript variant 1NM_152788.4:c.N/AIntron Variant
ANKS1B transcript variant 2NM_181670.3:c.N/AIntron Variant
ANKS1B transcript variant 4NM_001204065.1:c.N/AGenic Upstream Transcript Variant
ANKS1B transcript variant 10NM_001204079.1:c.N/AGenic Upstream Transcript Variant
ANKS1B transcript variant 11NM_001204080.1:c.N/AGenic Upstream Transcript Variant
ANKS1B transcript variant 12NM_001204081.1:c.N/AGenic Upstream Transcript Variant
ANKS1B transcript variant X9XM_005269028.4:c.N/AIntron Variant
ANKS1B transcript variant X13XM_005269029.4:c.N/AIntron Variant
ANKS1B transcript variant X2XM_006719504.3:c.N/AIntron Variant
ANKS1B transcript variant X3XM_006719505.3:c.N/AIntron Variant
ANKS1B transcript variant X4XM_006719506.3:c.N/AIntron Variant
ANKS1B transcript variant X6XM_006719507.3:c.N/AIntron Variant
ANKS1B transcript variant X10XM_006719508.3:c.N/AIntron Variant
ANKS1B transcript variant X11XM_006719509.3:c.N/AIntron Variant
ANKS1B transcript variant X16XM_006719510.3:c.N/AIntron Variant
ANKS1B transcript variant X18XM_006719512.3:c.N/AIntron Variant
ANKS1B transcript variant X19XM_006719513.3:c.N/AIntron Variant
ANKS1B transcript variant X21XM_006719514.3:c.N/AIntron Variant
ANKS1B transcript variant X14XM_011538571.2:c.N/AIntron Variant
ANKS1B transcript variant X1XM_017019651.1:c.N/AIntron Variant
ANKS1B transcript variant X5XM_017019652.1:c.N/AIntron Variant
ANKS1B transcript variant X7XM_017019653.1:c.N/AIntron Variant
ANKS1B transcript variant X8XM_017019654.1:c.N/AIntron Variant
ANKS1B transcript variant X12XM_017019655.1:c.N/AIntron Variant
ANKS1B transcript variant X15XM_017019656.1:c.N/AIntron Variant
ANKS1B transcript variant X17XM_017019657.1:c.N/AIntron Variant
ANKS1B transcript variant X20XM_017019658.1:c.N/AIntron Variant
ANKS1B transcript variant X23XM_017019659.1:c.N/AIntron Variant
ANKS1B transcript variant X24XM_017019660.1:c.N/AIntron Variant
ANKS1B transcript variant X25XM_017019661.1:c.N/AIntron Variant
ANKS1B transcript variant X26XM_017019662.1:c.N/AIntron Variant
ANKS1B transcript variant X27XM_017019663.1:c.N/AIntron Variant
ANKS1B transcript variant X28XM_017019664.1:c.N/AIntron Variant
ANKS1B transcript variant X29XM_017019665.1:c.N/AIntron Variant
ANKS1B transcript variant X30XM_005269032.3:c.N/AGenic Upstream Transcript Variant
ANKS1B transcript variant X22XR_001748815.1:n.N/AIntron Variant

Gene: LOC101928937, uncharacterized LOC101928937(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC101928937 transcriptNR_110095.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.973G=0.027
1000GenomesAmericanSub694T=0.470G=0.530
1000GenomesEast AsianSub1008T=0.314G=0.686
1000GenomesEuropeSub1006T=0.608G=0.392
1000GenomesGlobalStudy-wide5008T=0.619G=0.381
1000GenomesSouth AsianSub978T=0.570G=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.595G=0.405
The Genome Aggregation DatabaseAfricanSub8724T=0.913G=0.087
The Genome Aggregation DatabaseAmericanSub838T=0.480G=0.520
The Genome Aggregation DatabaseEast AsianSub1620T=0.304G=0.696
The Genome Aggregation DatabaseEuropeSub18474T=0.579G=0.421
The Genome Aggregation DatabaseGlobalStudy-wide29958T=0.659G=0.340
The Genome Aggregation DatabaseOtherSub302T=0.630G=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.746G=0.253
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.603G=0.397
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
rs23726440.00068alcohol dependence24277619

eQTL of rs2372644 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 rs2372644 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 )
chr129945361599453939E067-36821
chr129945400399454097E067-36663
chr129945411799454190E067-36570
chr129948105499481411E067-9349
chr129948154299481685E067-9075
chr129950585799506040E06715097
chr129952472299524838E06733962
chr129952493299525071E06734172
chr129952509299525207E06734332
chr129952525299525317E06734492
chr129944924599449289E068-41471
chr129948105499481411E068-9349
chr129950165399501870E06810893
chr129950200899502058E06811248
chr129950209399502143E06811333
chr129950268599502750E06811925
chr129950275199502805E06811991
chr129951269499512777E06821934
chr129951345999513509E06822699
chr129951396499514083E06823204
chr129952442199524525E06833661
chr129952472299524838E06833962
chr129952493299525071E06834172
chr129952509299525207E06834332
chr129952525299525317E06834492
chr129953202699532076E06841266
chr129953214799532203E06841387
chr129953224799532469E06841487
chr129950585799506040E06915097
chr129950616499506214E06915404
chr129950634399506403E06915583
chr129951521899515671E06924458
chr129952472299524838E06933962
chr129952493299525071E06934172
chr129952509299525207E06934332
chr129952525299525317E06934492
chr129952538099526251E06934620
chr129948076499481022E070-9738
chr129948105499481411E070-9349
chr129948154299481685E070-9075
chr129948178799481851E070-8909
chr129948207399482124E070-8636
chr129950469599504745E07013935
chr129950481699504922E07014056
chr129950585799506040E07015097
chr129951521899515671E07024458
chr129951641399516706E07025653
chr129952472299524838E07033962
chr129952493299525071E07034172
chr129952509299525207E07034332
chr129952525299525317E07034492
chr129952538099526251E07034620
chr129953202699532076E07041266
chr129953214799532203E07041387
chr129953224799532469E07041487
chr129953248399532536E07041723
chr129953656399536693E07045803
chr129952493299525071E07134172
chr129952509299525207E07134332
chr129952525299525317E07134492
chr129952538099526251E07134620
chr129951521899515671E07224458
chr129952472299524838E07233962
chr129952493299525071E07234172
chr129952509299525207E07234332
chr129952525299525317E07234492
chr129952538099526251E07234620
chr129945514799455226E073-35534
chr129948105499481411E073-9349
chr129950469599504745E07313935
chr129950481699504922E07314056
chr129944329299443448E081-47312
chr129944372899443819E081-46941
chr129944399299444437E081-46323
chr129944536299445490E081-45270
chr129946030599460524E081-30236
chr129946059399460803E081-29957
chr129946096599461450E081-29310
chr129950415599504258E08113395
chr129950444099504508E08113680
chr129950469599504745E08113935
chr129950481699504922E08114056
chr129950585799506040E08115097
chr129951521899515671E08124458
chr129952509299525207E08134332
chr129952525299525317E08134492
chr129952538099526251E08134620
chr129944924599449289E082-41471
chr129945010099450200E082-40560
chr129946030599460524E082-30236
chr129946059399460803E082-29957
chr129946096599461450E082-29310
chr129948105499481411E082-9349
chr129948154299481685E082-9075
chr129948178799481851E082-8909
chr129948207399482124E082-8636
chr129950415599504258E08213395
chr129950444099504508E08213680
chr129950469599504745E08213935
chr129950481699504922E08214056
chr129950585799506040E08215097
chr129951521899515671E08224458
chr129951641399516706E08225653
chr129952442199524525E08233661
chr129952472299524838E08233962
chr129952493299525071E08234172
chr129952509299525207E08234332
chr129952525299525317E08234492
chr129952538099526251E08234620