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rs137852622

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852622(C;C)
Make rs137852622(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position50168512
GeneSGCA
is asnp
is mentioned by
dbSNPrs137852622
ebirs137852622
HLIrs137852622
Exacrs137852622
Varsomers137852622
Maprs137852622
PheGenIrs137852622
hapmaprs137852622
1000 genomesrs137852622
hgdprs137852622
ensemblrs137852622
gopubmedrs137852622
geneviewrs137852622
scholarrs137852622
googlers137852622
pharmgkbrs137852622
gwascentralrs137852622
openSNPrs137852622
23andMers137852622
23andMe allrs137852622
SNP Nexus

SNPshotrs137852622
SNPdbers137852622
MSV3drs137852622
GWAS Ctlgrs137852622
Max Magnitude0
OMIM600119
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852622(C;C)
Alt rs137852622(C;C)
Reference rs137852622(T;T)
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.48245873T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010043.3,