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rs121909296

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909296(A;A)
Make rs121909296(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position156344574
GeneSGCD
is asnp
is mentioned by
dbSNPrs121909296
dbSNP (classic)rs121909296
ClinGenrs121909296
ebirs121909296
HLIrs121909296
Exacrs121909296
Gnomadrs121909296
Varsomers121909296
LitVarrs121909296
Maprs121909296
PheGenIrs121909296
Biobankrs121909296
1000 genomesrs121909296
hgdprs121909296
ensemblrs121909296
geneviewrs121909296
scholarrs121909296
googlers121909296
pharmgkbrs121909296
gwascentralrs121909296
openSNPrs121909296
23andMers121909296
SNPshotrs121909296
SNPdbers121909296
MSV3drs121909296
GWAS Ctlgrs121909296
Max Magnitude0
OMIM601411
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909296(A;A) rs121909296(T;T)
Alt rs121909296(A;A) rs121909296(T;T)
Reference Rs121909296(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.155771584G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008651.3,