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rs1057516664

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516664(G;T)
Make rs1057516664(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50168568
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057516664
dbSNP (old)rs1057516664
ClinGenrs1057516664
ebirs1057516664
HLIrs1057516664
Exacrs1057516664
Gnomadrs1057516664
Varsomers1057516664
Maprs1057516664
PheGenIrs1057516664
Biobankrs1057516664
1000 genomesrs1057516664
hgdprs1057516664
ensemblrs1057516664
gopubmedrs1057516664
geneviewrs1057516664
scholarrs1057516664
googlers1057516664
pharmgkbrs1057516664
gwascentralrs1057516664
openSNPrs1057516664
23andMers1057516664
23andMe allrs1057516664
SNPshotrs1057516664
SNPdbers1057516664
MSV3drs1057516664
GWAS Ctlgrs1057516664
Max Magnitude0
ClinVar
Risk rs1057516664(T;T)
Alt rs1057516664(T;T)
Reference Rs1057516664(G;G)
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.48245929G>T
CLNSRC
CLNACC RCV000411377.1,