rs16999497

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0076 (1601/20810,GnomAD)
C=0145 (547/3775,1000G)
C=0001 (2/3708,TWINSUK)
C=0001 (4/2889,ALSPAC)
chrX:129601222 (GRCh38.p7) (Xq26.1)
AD
GWASdb2
1   publication(s)
See rs on genome
59 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.129601222T>C
GRCh37.p13 chr XNC_000023.10:g.128735199T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003T=0.750C=0.250
1000GenomesAmericanSub524T=0.940C=0.060
1000GenomesEast AsianSub764T=0.810C=0.190
1000GenomesEuropeSub766T=0.990C=0.010
1000GenomesGlobalStudy-wide3775T=0.855C=0.145
1000GenomesSouth AsianSub718T=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889T=0.999C=0.001
The Genome Aggregation DatabaseAfricanSub5808T=0.772C=0.228
The Genome Aggregation DatabaseAmericanSub619T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub992T=0.810C=0.190
The Genome Aggregation DatabaseEuropeSub13204T=0.996C=0.003
The Genome Aggregation DatabaseGlobalStudy-wide20810T=0.923C=0.076
The Genome Aggregation DatabaseOtherSub187T=0.980C=0.020
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.999C=0.001
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
rs169994970.000636alcohol dependence20201924

eQTL of rs16999497 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 rs16999497 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 )
chrX128716038128716092E067-19107
chrX128724567128725009E067-10190
chrX128740838128740926E0675639
chrX128741032128741384E0675833
chrX128741455128741627E0676256
chrX128768840128769088E06733641
chrX128784993128785047E06749794
chrX128716995128717045E068-18154
chrX128734683128735504E0680
chrX128735651128735782E068452
chrX128741032128741384E0685833
chrX128741455128741627E0686256
chrX128768579128768827E06833380
chrX128768840128769088E06833641
chrX128771352128772050E06836153
chrX128780681128780810E06845482
chrX128781076128781116E06845877
chrX128724567128725009E069-10190
chrX128734030128734113E069-1086
chrX128734443128734497E069-702
chrX128734683128735504E0690
chrX128735651128735782E069452
chrX128739513128740249E0694314
chrX128740513128740568E0695314
chrX128740838128740926E0695639
chrX128741032128741384E0695833
chrX128768840128769088E06933641
chrX128768579128768827E07033380
chrX128768840128769088E07033641
chrX128723261128723305E071-11894
chrX128724567128725009E071-10190
chrX128725770128725882E071-9317
chrX128727200128727412E071-7787
chrX128727453128727557E071-7642
chrX128734683128735504E0710
chrX128735651128735782E071452
chrX128739513128740249E0714314
chrX128780681128780810E07145482
chrX128723261128723305E072-11894
chrX128724567128725009E072-10190
chrX128734443128734497E072-702
chrX128734683128735504E0720
chrX128735651128735782E072452
chrX128748805128748855E07213606
chrX128749007128749169E07213808
chrX128768579128768827E07233380
chrX128768840128769088E07233641
chrX128735865128735918E073666
chrX128736026128736300E073827
chrX128738664128738719E0733465
chrX128738763128738961E0733564
chrX128768840128769088E07333641
chrX128723261128723305E074-11894
chrX128724567128725009E074-10190
chrX128734683128735504E0740
chrX128735651128735782E074452
chrX128768840128769088E07433641
chrX128768579128768827E08133380
chrX128768840128769088E08133641