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rs137852621

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852621(A;A)
Make rs137852621(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position50167717
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs137852621
dbSNP (classic)rs137852621
ClinGenrs137852621
ebirs137852621
HLIrs137852621
Exacrs137852621
Gnomadrs137852621
Varsomers137852621
LitVarrs137852621
Maprs137852621
PheGenIrs137852621
Biobankrs137852621
1000 genomesrs137852621
hgdprs137852621
ensemblrs137852621
geneviewrs137852621
scholarrs137852621
googlers137852621
pharmgkbrs137852621
gwascentralrs137852621
openSNPrs137852621
23andMers137852621
SNPshotrs137852621
SNPdbers137852621
MSV3drs137852621
GWAS Ctlgrs137852621
Max Magnitude0
OMIM600119
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852621(A;A) rs137852621(C;C)
Alt rs137852621(A;A) rs137852621(C;C)
Reference Rs137852621(G;G)
Significance Other
Disease Limb-girdle muscular dystrophy not specified
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D not specified
Reversed 0
HGVS NC_000017.10:g.48245078G>A; NC_000017.10:g.48245078G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010042.6, RCV000280379.1,