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rs149914792

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs149914792(A;A)
Make rs149914792(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position42399601
GeneCAPN3
is asnp
is mentioned by
dbSNPrs149914792
dbSNP (old)rs149914792
ClinGenrs149914792
ebirs149914792
HLIrs149914792
Exacrs149914792
Gnomadrs149914792
Varsomers149914792
Maprs149914792
PheGenIrs149914792
Biobankrs149914792
1000 genomesrs149914792
hgdprs149914792
ensemblrs149914792
gopubmedrs149914792
geneviewrs149914792
scholarrs149914792
googlers149914792
pharmgkbrs149914792
gwascentralrs149914792
openSNPrs149914792
23andMers149914792
23andMe allrs149914792
SNPshotrs149914792
SNPdbers149914792
MSV3drs149914792
GWAS Ctlgrs149914792
Max Magnitude0
ClinVar
Risk rs149914792(A;A)
Alt rs149914792(A;A)
Reference Rs149914792(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A not provided
Reversed 0
HGVS NC_000015.9:g.42691799G>A
CLNSRC
CLNACC RCV000297728.1, RCV000440492.1,