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rs143962150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs143962150(C;C)
Make rs143962150(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome17
Position50168506
GeneLOC105371818, SGCA
is asnp
is mentioned by
dbSNPrs143962150
dbSNP (classic)rs143962150
ClinGenrs143962150
ebirs143962150
HLIrs143962150
Exacrs143962150
Gnomadrs143962150
Varsomers143962150
LitVarrs143962150
Maprs143962150
PheGenIrs143962150
Biobankrs143962150
1000 genomesrs143962150
hgdprs143962150
ensemblrs143962150
geneviewrs143962150
scholarrs143962150
googlers143962150
pharmgkbrs143962150
gwascentralrs143962150
openSNPrs143962150
23andMers143962150
23andMe allrs143962150
SNPshotrs143962150
SNPdbers143962150
MSV3drs143962150
GWAS Ctlgrs143962150
Max Magnitude0
ClinVar
Risk rs143962150(C;C)
Alt rs143962150(C;C)
Reference Rs143962150(T;T)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene SGCA
CLNDBN Limb-girdle muscular dystrophy, type 2D
Reversed 0
HGVS NC_000017.10:g.48245867T>C
CLNSRC
CLNACC RCV000284145.1,