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rs137852623

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852623(C;T)
Make rs137852623(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50170245
GeneSGCA
is asnp
is mentioned by
dbSNPrs137852623
ebirs137852623
HLIrs137852623
Exacrs137852623
Varsomers137852623
Maprs137852623
PheGenIrs137852623
hapmaprs137852623
1000 genomesrs137852623
hgdprs137852623
ensemblrs137852623
gopubmedrs137852623
geneviewrs137852623
scholarrs137852623
googlers137852623
pharmgkbrs137852623
gwascentralrs137852623
openSNPrs137852623
23andMers137852623
23andMe allrs137852623
SNP Nexus

SNPshotrs137852623
SNPdbers137852623
MSV3drs137852623
GWAS Ctlgrs137852623
GMAF0.0004591
Max Magnitude0
OMIM600119
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852623(G,T;G,T)
Alt rs137852623(G,T;G,T)
Reference rs137852623(C;C)
Significance Other
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48247606C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010046.4,