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rs758795961

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs758795961(C;C)
Make rs758795961(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42387820
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs758795961
ebirs758795961
HLIrs758795961
Exacrs758795961
Varsomers758795961
Maprs758795961
PheGenIrs758795961
hapmaprs758795961
1000 genomesrs758795961
hgdprs758795961
ensemblrs758795961
gopubmedrs758795961
geneviewrs758795961
scholarrs758795961
googlers758795961
pharmgkbrs758795961
gwascentralrs758795961
openSNPrs758795961
23andMers758795961
23andMe allrs758795961
SNP Nexus

SNPshotrs758795961
SNPdbers758795961
MSV3drs758795961
GWAS Ctlgrs758795961
Max Magnitude0
ClinVar
Risk rs758795961(C;C)
Alt rs758795961(C;C)
Reference rs758795961(T;T)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42680018T>C
CLNSRC Quest Diagnostics
CLNACC RCV000201041.1,