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rs1057516242

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516242(C;T)
Make rs1057516242(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50168499
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057516242
dbSNP (old)rs1057516242
ClinGenrs1057516242
ebirs1057516242
HLIrs1057516242
Exacrs1057516242
Gnomadrs1057516242
Varsomers1057516242
Maprs1057516242
PheGenIrs1057516242
Biobankrs1057516242
1000 genomesrs1057516242
hgdprs1057516242
ensemblrs1057516242
gopubmedrs1057516242
geneviewrs1057516242
scholarrs1057516242
googlers1057516242
pharmgkbrs1057516242
gwascentralrs1057516242
openSNPrs1057516242
23andMers1057516242
23andMe allrs1057516242
SNPshotrs1057516242
SNPdbers1057516242
MSV3drs1057516242
GWAS Ctlgrs1057516242
Max Magnitude0
ClinVar
Risk rs1057516242(T;T)
Alt rs1057516242(T;T)
Reference Rs1057516242(C;C)
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.48245860C>T
CLNSRC
CLNACC RCV000410603.1,