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rs869025337

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869025337(C;T)
Make rs869025337(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position105124593
GeneBVES
is asnp
is mentioned by
dbSNPrs869025337
ebirs869025337
HLIrs869025337
Exacrs869025337
Varsomers869025337
Maprs869025337
PheGenIrs869025337
hapmaprs869025337
1000 genomesrs869025337
hgdprs869025337
ensemblrs869025337
gopubmedrs869025337
geneviewrs869025337
scholarrs869025337
googlers869025337
pharmgkbrs869025337
gwascentralrs869025337
openSNPrs869025337
23andMers869025337
23andMe allrs869025337
SNP Nexus

SNPshotrs869025337
SNPdbers869025337
MSV3drs869025337
GWAS Ctlgrs869025337
Max Magnitude0
ClinVar
Risk rs869025337(T;T)
Alt rs869025337(T;T)
Reference rs869025337(C;C)
Significance Pathogenic
Disease Muscular dystrophy
Variation info
Gene BVES
CLNDBN Muscular dystrophy, limb-girdle, type 2X
Reversed 1
HGVS NC_000006.11:g.105572468G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000207494.2,