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rs199476325

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476325(A;A)
Make rs199476325(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome3
Position8733976
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs199476325
ebirs199476325
HLIrs199476325
Exacrs199476325
Varsomers199476325
Maprs199476325
PheGenIrs199476325
hapmaprs199476325
1000 genomesrs199476325
hgdprs199476325
ensemblrs199476325
gopubmedrs199476325
geneviewrs199476325
scholarrs199476325
googlers199476325
pharmgkbrs199476325
gwascentralrs199476325
openSNPrs199476325
23andMers199476325
23andMe allrs199476325
SNP Nexus

SNPshotrs199476325
SNPdbers199476325
MSV3drs199476325
GWAS Ctlgrs199476325
Max Magnitude0
ClinVar
Risk rs199476325(A;A)
Alt rs199476325(A;A)
Reference rs199476325(G;G)
Significance Probable-Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene SSUH2 CAV3
CLNDBN not provided Limb-girdle muscular dystrophy, type 1C
Reversed 0
HGVS NC_000003.11:g.8775662G>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024415.1, RCV000234023.1,