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rs1057516650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516650(A;G)
Make rs1057516650(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50167945
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057516650
dbSNP (old)rs1057516650
ClinGenrs1057516650
ebirs1057516650
HLIrs1057516650
Exacrs1057516650
Gnomadrs1057516650
Varsomers1057516650
LitVarrs1057516650
Maprs1057516650
PheGenIrs1057516650
Biobankrs1057516650
1000 genomesrs1057516650
hgdprs1057516650
ensemblrs1057516650
gopubmedrs1057516650
geneviewrs1057516650
scholarrs1057516650
googlers1057516650
pharmgkbrs1057516650
gwascentralrs1057516650
openSNPrs1057516650
23andMers1057516650
23andMe allrs1057516650
SNPshotrs1057516650
SNPdbers1057516650
MSV3drs1057516650
GWAS Ctlgrs1057516650
Max Magnitude0
ClinVar
Risk rs1057516650(G;G)
Alt rs1057516650(G;G)
Reference Rs1057516650(A;A)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48245306A>G
CLNSRC
CLNACC RCV000410516.1,