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rs398124126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398124126(A;A)
Make rs398124126(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position237361120
GeneCOL6A3
is asnp
is mentioned by
dbSNPrs398124126
ebirs398124126
HLIrs398124126
Exacrs398124126
Varsomers398124126
Maprs398124126
PheGenIrs398124126
hapmaprs398124126
1000 genomesrs398124126
hgdprs398124126
ensemblrs398124126
gopubmedrs398124126
geneviewrs398124126
scholarrs398124126
googlers398124126
pharmgkbrs398124126
gwascentralrs398124126
openSNPrs398124126
23andMers398124126
23andMe allrs398124126
SNP Nexus

SNPshotrs398124126
SNPdbers398124126
MSV3drs398124126
GWAS Ctlgrs398124126
Max Magnitude0
ClinVar
Risk rs398124126(A;A)
Alt rs398124126(A;A)
Reference rs398124126(G;G)
Significance Pathogenic
Disease not provided Ullrich congenital muscular dystrophy
Variation info
Gene COL6A3
CLNDBN not provided Ullrich congenital muscular dystrophy
Reversed 1
HGVS NC_000002.11:g.238269763C>T
CLNSRC HGMD
CLNACC RCV000080961.3, RCV000175056.1,