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rs1057516244

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516244(-;G)
Make rs1057516244(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50168476
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057516244
dbSNP (old)rs1057516244
ClinGenrs1057516244
ebirs1057516244
HLIrs1057516244
Exacrs1057516244
Gnomadrs1057516244
Varsomers1057516244
Maprs1057516244
PheGenIrs1057516244
Biobankrs1057516244
1000 genomesrs1057516244
hgdprs1057516244
ensemblrs1057516244
gopubmedrs1057516244
geneviewrs1057516244
scholarrs1057516244
googlers1057516244
pharmgkbrs1057516244
gwascentralrs1057516244
openSNPrs1057516244
23andMers1057516244
23andMe allrs1057516244
SNPshotrs1057516244
SNPdbers1057516244
MSV3drs1057516244
GWAS Ctlgrs1057516244
Max Magnitude0
ClinVar
Risk rs1057516244(G;G)
Alt rs1057516244(G;G)
Reference Rs1057516244(-;-)
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.48245837dupG
CLNSRC
CLNACC RCV000410508.1,