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rs143570936

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs143570936(A;A)
Make rs143570936(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position50169246
GeneSGCA
is asnp
is mentioned by
dbSNPrs143570936
ebirs143570936
HLIrs143570936
Exacrs143570936
Varsomers143570936
Maprs143570936
PheGenIrs143570936
hapmaprs143570936
1000 genomesrs143570936
hgdprs143570936
ensemblrs143570936
gopubmedrs143570936
geneviewrs143570936
scholarrs143570936
googlers143570936
pharmgkbrs143570936
gwascentralrs143570936
openSNPrs143570936
23andMers143570936
23andMe allrs143570936
SNP Nexus

SNPshotrs143570936
SNPdbers143570936
MSV3drs143570936
GWAS Ctlgrs143570936
Max Magnitude0
ClinVar
Risk rs143570936(A;A)
Alt rs143570936(A;A)
Reference rs143570936(G;G)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN not provided Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48246607G>A
CLNSRC HGMD
CLNACC RCV000153938.2, RCV000179241.2,