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rs397514451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514451(A;G)
Make rs397514451(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50168398
GeneSGCA
is asnp
is mentioned by
dbSNPrs397514451
ebirs397514451
HLIrs397514451
Exacrs397514451
Varsomers397514451
Maprs397514451
PheGenIrs397514451
hapmaprs397514451
1000 genomesrs397514451
hgdprs397514451
ensemblrs397514451
gopubmedrs397514451
geneviewrs397514451
scholarrs397514451
googlers397514451
pharmgkbrs397514451
gwascentralrs397514451
openSNPrs397514451
23andMers397514451
23andMe allrs397514451
SNP Nexus

SNPshotrs397514451
SNPdbers397514451
MSV3drs397514451
GWAS Ctlgrs397514451
Max Magnitude0
ClinVar
Risk rs397514451(G;G)
Alt rs397514451(G;G)
Reference rs397514451(A;A)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48245759A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010045.3,