rs11704468

Homo sapiens
C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0063 (1902/29978,GnomAD)
T=0055 (1626/29114,TOPMED)
T=0080 (401/5008,1000G)
T=0070 (270/3854,ALSPAC)
T=0078 (290/3708,TWINSUK)
chr22:47263264 (GRCh38.p7) (22q13.31)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 22NC_000022.11:g.47263264C>T
GRCh37.p13 chr 22NC_000022.10:g.47659014C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.991T=0.009
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.862T=0.138
1000GenomesEuropeSub1006C=0.917T=0.083
1000GenomesGlobalStudy-wide5008C=0.920T=0.080
1000GenomesSouth AsianSub978C=0.890T=0.110
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.930T=0.070
The Genome Aggregation DatabaseAfricanSub8734C=0.982T=0.018
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1620C=0.872T=0.128
The Genome Aggregation DatabaseEuropeSub18484C=0.922T=0.077
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.936T=0.063
The Genome Aggregation DatabaseOtherSub302C=0.870T=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29114C=0.944T=0.055
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.922T=0.078
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
rs117044680.00068alcohol dependence20201924

eQTL of rs11704468 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 rs11704468 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 )
chr224761788247617932E067-41082
chr224764252847642653E067-16361
chr224764291647643309E067-15705
chr224764399647644046E067-14968
chr224764252847642653E068-16361
chr224764291647643309E068-15705
chr224761788247617932E069-41082
chr224761807947618170E069-40844
chr224764252847642653E069-16361
chr224764291647643309E069-15705
chr224764399647644046E069-14968
chr224761788247617932E070-41082
chr224761807947618170E070-40844
chr224763447147634778E070-24236
chr224763484447634884E070-24130
chr224763492047635018E070-23996
chr224764252847642653E070-16361
chr224764291647643309E070-15705
chr224767148547672118E07012471
chr224767224147672291E07013227
chr224767253447672584E07013520
chr224761788247617932E071-41082
chr224761807947618170E071-40844
chr224764252847642653E071-16361
chr224764291647643309E071-15705
chr224764399647644046E071-14968
chr224761788247617932E072-41082
chr224761807947618170E072-40844
chr224764252847642653E072-16361
chr224764291647643309E072-15705
chr224764399647644046E072-14968
chr224768808247688725E07229068
chr224768880147688928E07229787
chr224768944847689492E07230434
chr224761788247617932E073-41082
chr224761807947618170E073-40844
chr224764252847642653E073-16361
chr224764291647643309E073-15705
chr224764399647644046E073-14968
chr224761788247617932E074-41082
chr224764252847642653E074-16361
chr224764291647643309E074-15705
chr224764399647644046E074-14968
chr224762577747627392E081-31622
chr224762769447627799E081-31215
chr224762822747628657E081-30357
chr224767345647673622E08114442
chr224767371447673782E08114700
chr224767382847673958E08114814
chr224767615047676480E08117136
chr224767659347676643E08117579
chr224767679047676835E08117776
chr224767693747677169E08117923
chr224770319147703333E08144177
chr224770361647703984E08144602
chr224761788247617932E082-41082