rs9869202

Homo sapiens
C>A / C>T
MB21D2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0450 (13473/29896,GnomAD)
T=0387 (11296/29118,TOPMED)
T=0375 (1878/5008,1000G)
C==0438 (1688/3854,ALSPAC)
C==0437 (1621/3708,TWINSUK)
chr3:192907401 (GRCh38.p7) (3q29)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.192907401C>A
GRCh38.p7 chr 3NC_000003.12:g.192907401C>T
GRCh37.p13 chr 3NC_000003.11:g.192625190C>A
GRCh37.p13 chr 3NC_000003.11:g.192625190C>T

Gene: MB21D2, Mab-21 domain containing 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MB21D2 transcriptNM_178496.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.894T=0.106
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.740T=0.260
1000GenomesEuropeSub1006C=0.409T=0.591
1000GenomesGlobalStudy-wide5008C=0.625T=0.375
1000GenomesSouth AsianSub978C=0.480T=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.438T=0.562
The Genome Aggregation DatabaseAfricanSub8704C=0.819A=0.000
The Genome Aggregation DatabaseAmericanSub836C=0.350A=0.00,
The Genome Aggregation DatabaseEast AsianSub1616C=0.762A=0.001
The Genome Aggregation DatabaseEuropeSub18440C=0.414A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29896C=0.549A=0.000
The Genome Aggregation DatabaseOtherSub300C=0.460A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.612T=0.387
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.437T=0.563
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
rs98692020.00022alcohol dependence20201924

eQTL of rs9869202 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 rs9869202 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 )
chr3125401982125402104E06717194
chr3125402183125402233E06717395
chr3125402323125402575E06717535
chr3125402577125402664E06717789
chr3125401630125401796E06816842
chr3125401982125402104E06817194
chr3125402183125402233E06817395
chr3125402323125402575E06817535
chr3125402577125402664E06817789
chr3125401982125402104E06917194
chr3125402183125402233E06917395
chr3125402323125402575E06917535
chr3125402577125402664E06917789
chr3125401630125401796E07016842
chr3125401982125402104E07017194
chr3125402183125402233E07017395
chr3125402323125402575E07017535
chr3125402577125402664E07017789
chr3125403133125403364E07018345
chr3125413786125413836E07028998
chr3125413913125414013E07029125
chr3125414045125414104E07029257
chr3125362945125363758E071-21030
chr3125401630125401796E07116842
chr3125401982125402104E07117194
chr3125402183125402233E07117395
chr3125402323125402575E07117535
chr3125402577125402664E07117789
chr3125403133125403364E07118345
chr3125401982125402104E07217194
chr3125402183125402233E07217395
chr3125402323125402575E07217535
chr3125402577125402664E07217789
chr3125402577125402664E07317789
chr3125403133125403364E07318345
chr3125401630125401796E07416842
chr3125401982125402104E07417194
chr3125402183125402233E07417395
chr3125402323125402575E07417535
chr3125402577125402664E07417789
chr3125394486125395065E0819698
chr3125401982125402104E08117194
chr3125402183125402233E08117395
chr3125402323125402575E08117535
chr3125402577125402664E08117789
chr3125403133125403364E08118345
chr3125387476125387621E0822688
chr3125387812125387915E0823024
chr3125394486125395065E0829698
chr3125402323125402575E08217535
chr3125402577125402664E08217789
chr3125403133125403364E08218345