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rs374665929

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs374665929(A;G)
Make rs374665929(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42399483
GeneCAPN3
is asnp
is mentioned by
dbSNPrs374665929
ebirs374665929
HLIrs374665929
Exacrs374665929
Varsomers374665929
Maprs374665929
PheGenIrs374665929
hapmaprs374665929
1000 genomesrs374665929
hgdprs374665929
ensemblrs374665929
gopubmedrs374665929
geneviewrs374665929
scholarrs374665929
googlers374665929
pharmgkbrs374665929
gwascentralrs374665929
openSNPrs374665929
23andMers374665929
23andMe allrs374665929
SNP Nexus

SNPshotrs374665929
SNPdbers374665929
MSV3drs374665929
GWAS Ctlgrs374665929
Max Magnitude0
ClinVar
Risk rs374665929(G;G)
Alt rs374665929(G;G)
Reference rs374665929(A;A)
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.42691681A>G
CLNSRC Quest Diagnostics
CLNACC RCV000201038.1,