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rs886043221

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Chromosome17
Position50168391
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs886043221
dbSNP (classic)rs886043221
ClinGenrs886043221
ebirs886043221
HLIrs886043221
Exacrs886043221
Gnomadrs886043221
Varsomers886043221
LitVarrs886043221
Maprs886043221
PheGenIrs886043221
Biobankrs886043221
1000 genomesrs886043221
hgdprs886043221
ensemblrs886043221
geneviewrs886043221
scholarrs886043221
googlers886043221
pharmgkbrs886043221
gwascentralrs886043221
openSNPrs886043221
23andMers886043221
23andMe allrs886043221
SNPshotrs886043221
SNPdbers886043221
MSV3drs886043221
GWAS Ctlgrs886043221
Max Magnitude0
ClinVar
Risk rs886043221(T;T)
Alt rs886043221(T;T)
Reference Rs886043221(C;C)
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.48245752C>T
CLNSRC
CLNACC RCV000403326.1,