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rs267607045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607045(C;C)
Make rs267607045(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position156594940
GeneSGCD
is asnp
is mentioned by
dbSNPrs267607045
ebirs267607045
HLIrs267607045
Exacrs267607045
Varsomers267607045
Maprs267607045
PheGenIrs267607045
hapmaprs267607045
1000 genomesrs267607045
hgdprs267607045
ensemblrs267607045
gopubmedrs267607045
geneviewrs267607045
scholarrs267607045
googlers267607045
pharmgkbrs267607045
gwascentralrs267607045
openSNPrs267607045
23andMers267607045
23andMe allrs267607045
SNP Nexus

SNPshotrs267607045
SNPdbers267607045
MSV3drs267607045
GWAS Ctlgrs267607045
Max Magnitude0
ClinVar
Risk rs267607045(C;C)
Alt rs267607045(C;C)
Reference rs267607045(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCD
CLNDBN Limb-girdle muscular dystrophy, type 2F
Reversed 0
HGVS NC_000005.9:g.156021950G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008656.4,