rs1921968

Homo sapiens
C>T
DMD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0052 (1087/20903,GnomAD)
C==0079 (298/3775,1000G)
C==0070 (260/3708,TWINSUK)
C==0085 (245/2889,ALSPAC)
chrX:31419688 (GRCh38.p7) (Xp21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr XNC_000023.11:g.31419688C>T
GRCh37.p13 chr XNC_000023.10:g.31437805C>T
DMD RefSeqGene LRG_199

Gene: DMD, dystrophin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DMD transcript variant Dp427cNM_000109.3:c.N/AIntron Variant
DMD transcript variant Dp427mNM_004006.2:c.N/AIntron Variant
DMD transcript variant Dp427p1NM_004009.3:c.N/AIntron Variant
DMD transcript variant Dp427p2NM_004010.3:c.N/AIntron Variant
DMD transcript variant Dp260-1NM_004011.3:c.N/AIntron Variant
DMD transcript variant Dp260-2NM_004012.3:c.N/AIntron Variant
DMD transcript variant Dp140NM_004013.2:c.N/AIntron Variant
DMD transcript variant Dp116NM_004014.2:c.N/AIntron Variant
DMD transcript variant Dp140cNM_004020.3:c.N/AIntron Variant
DMD transcript variant Dp140bNM_004021.2:c.N/AIntron Variant
DMD transcript variant D140abNM_004022.2:c.N/AIntron Variant
DMD transcript variant Dp140bcNM_004023.2:c.N/AIntron Variant
DMD transcript variant Dp71NM_004015.2:c.N/AGenic Upstream Transcript Variant
DMD transcript variant Dp71bNM_004016.2:c.N/AGenic Upstream Transcript Variant
DMD transcript variant Dp71aNM_004017.2:c.N/AGenic Upstream Transcript Variant
DMD transcript variant Dp71abNM_004018.2:c.N/AGenic Upstream Transcript Variant
DMD transcript variant Dp40NM_004019.2:c.N/AGenic Upstream Transcript Variant
DMD transcript variant X1XM_006724468.2:c.N/AIntron Variant
DMD transcript variant X2XM_006724469.3:c.N/AIntron Variant
DMD transcript variant X3XM_006724470.3:c.N/AIntron Variant
DMD transcript variant X6XM_006724473.2:c.N/AIntron Variant
DMD transcript variant X7XM_006724474.3:c.N/AIntron Variant
DMD transcript variant X8XM_006724475.2:c.N/AIntron Variant
DMD transcript variant X5XM_011545467.1:c.N/AIntron Variant
DMD transcript variant X9XM_011545468.2:c.N/AIntron Variant
DMD transcript variant X4XM_017029328.1:c.N/AIntron Variant
DMD transcript variant X13XM_017029331.1:c.N/AIntron Variant
DMD transcript variant X12XM_011545469.1:c.N/AGenic Downstream Transcript Variant
DMD transcript variant X10XM_017029329.1:c.N/AGenic Downstream Transcript Variant
DMD transcript variant X11XM_017029330.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1003C=0.001T=0.999
1000GenomesAmericanSub524C=0.160T=0.840
1000GenomesEast AsianSub764C=0.030T=0.970
1000GenomesEuropeSub766C=0.060T=0.940
1000GenomesGlobalStudy-wide3775C=0.079T=0.921
1000GenomesSouth AsianSub718C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide2889C=0.085T=0.915
The Genome Aggregation DatabaseAfricanSub5902C=0.011T=0.989
The Genome Aggregation DatabaseAmericanSub621C=0.120T=0.880
The Genome Aggregation DatabaseEast AsianSub1024C=0.038T=0.962
The Genome Aggregation DatabaseEuropeSub13174C=0.068T=0.931
The Genome Aggregation DatabaseGlobalStudy-wide20903C=0.052T=0.948
The Genome Aggregation DatabaseOtherSub182C=0.050T=0.950
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.070T=0.930
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs19219680.000346alcohol dependence21314694

eQTL of rs1921968 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 rs1921968 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 )
chrX3140262031402660E067-35145
chrX3140273131402879E067-34926
chrX3146815031468332E06830345
chrX3142216931422267E081-15538
chrX3142239631422500E081-15305
chrX3142262631422676E081-15129
chrX3142273031422828E081-14977
chrX3142299531423233E081-14572
chrX3145370131454107E08115896



Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chrX3144176331442321E0673958
chrX3144176331442321E0683958