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rs1057516300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516300(A;G)
Make rs1057516300(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position50167580
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs1057516300
dbSNP (old)rs1057516300
ClinGenrs1057516300
ebirs1057516300
HLIrs1057516300
Exacrs1057516300
Gnomadrs1057516300
Varsomers1057516300
Maprs1057516300
PheGenIrs1057516300
Biobankrs1057516300
1000 genomesrs1057516300
hgdprs1057516300
ensemblrs1057516300
gopubmedrs1057516300
geneviewrs1057516300
scholarrs1057516300
googlers1057516300
pharmgkbrs1057516300
gwascentralrs1057516300
openSNPrs1057516300
23andMers1057516300
23andMe allrs1057516300
SNPshotrs1057516300
SNPdbers1057516300
MSV3drs1057516300
GWAS Ctlgrs1057516300
Max Magnitude0
ClinVar
Risk rs1057516300(G;G)
Alt rs1057516300(G;G)
Reference Rs1057516300(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.48244941A>G
CLNSRC
CLNACC RCV000409677.1,