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rs886041387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome17
Position50168518
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs886041387
dbSNP (classic)rs886041387
ClinGenrs886041387
ebirs886041387
HLIrs886041387
Exacrs886041387
Gnomadrs886041387
Varsomers886041387
LitVarrs886041387
Maprs886041387
PheGenIrs886041387
Biobankrs886041387
1000 genomesrs886041387
hgdprs886041387
ensemblrs886041387
geneviewrs886041387
scholarrs886041387
googlers886041387
pharmgkbrs886041387
gwascentralrs886041387
openSNPrs886041387
23andMers886041387
SNPshotrs886041387
SNPdbers886041387
MSV3drs886041387
GWAS Ctlgrs886041387
Max Magnitude0
ClinVar
Risk rs886041387(-;-)
Alt rs886041387(-;-)
Reference Rs886041387(C;C)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN not provided Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48245879delC
CLNSRC
CLNACC RCV000312896.1, RCV000381858.1,