rs11700693

Homo sapiens
C>G / C>T
LOC339622 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0218 (6550/29918,GnomAD)
T=0276 (1381/5008,1000G)
T=0270 (1040/3854,ALSPAC)
T=0256 (950/3708,TWINSUK)
chr21:24842731 (GRCh38.p7) (21q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.24842731C>G
GRCh38.p7 chr 21NC_000021.9:g.24842731C>T
GRCh37.p13 chr 21NC_000021.8:g.26215045C>G
GRCh37.p13 chr 21NC_000021.8:g.26215045C>T

Gene: LOC339622, uncharacterized LOC339622(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC01692 transcriptNR_046198.3:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.939T=0.061
1000GenomesAmericanSub694C=0.610T=0.390
1000GenomesEast AsianSub1008C=0.508T=0.492
1000GenomesEuropeSub1006C=0.760T=0.240
1000GenomesGlobalStudy-wide5008C=0.724T=0.276
1000GenomesSouth AsianSub978C=0.700T=0.300
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.730T=0.270
The Genome Aggregation DatabaseAfricanSub8716C=0.909G=0.000
The Genome Aggregation DatabaseAmericanSub836C=0.560G=0.00,
The Genome Aggregation DatabaseEast AsianSub1612C=0.491G=0.000
The Genome Aggregation DatabaseEuropeSub18452C=0.755G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29918C=0.781G=0.000
The Genome Aggregation DatabaseOtherSub302C=0.810G=0.01,
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.744T=0.256
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
rs117006930.00015alcohol dependence20201924

eQTL of rs11700693 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 rs11700693 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.