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rs387907298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907298(C;T)
Make rs387907298(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50168562
GeneSGCA
is asnp
is mentioned by
dbSNPrs387907298
ebirs387907298
HLIrs387907298
Exacrs387907298
Varsomers387907298
Maprs387907298
PheGenIrs387907298
hapmaprs387907298
1000 genomesrs387907298
hgdprs387907298
ensemblrs387907298
gopubmedrs387907298
geneviewrs387907298
scholarrs387907298
googlers387907298
pharmgkbrs387907298
gwascentralrs387907298
openSNPrs387907298
23andMers387907298
23andMe allrs387907298
SNP Nexus

SNPshotrs387907298
SNPdbers387907298
MSV3drs387907298
GWAS Ctlgrs387907298
Max Magnitude0
ClinVar
Risk rs387907298(T;T)
Alt rs387907298(T;T)
Reference rs387907298(C;C)
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.48245923C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030783.5,