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rs121909295

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909295(C;T)
Make rs121909295(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position156595042
GeneSGCD
is asnp
is mentioned by
dbSNPrs121909295
ebirs121909295
HLIrs121909295
Exacrs121909295
Varsomers121909295
Maprs121909295
PheGenIrs121909295
hapmaprs121909295
1000 genomesrs121909295
hgdprs121909295
ensemblrs121909295
gopubmedrs121909295
geneviewrs121909295
scholarrs121909295
googlers121909295
pharmgkbrs121909295
gwascentralrs121909295
openSNPrs121909295
23andMers121909295
23andMe allrs121909295
SNP Nexus

SNPshotrs121909295
SNPdbers121909295
MSV3drs121909295
GWAS Ctlgrs121909295
Max Magnitude0
OMIM601411
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909295(G,T;G,T)
Alt rs121909295(G,T;G,T)
Reference rs121909295(C;C)
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.156022052C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008650.3,