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rs116840788

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840788(A;A)
Make rs116840788(A;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745542
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840788
ebirs116840788
HLIrs116840788
Exacrs116840788
Varsomers116840788
Maprs116840788
PheGenIrs116840788
hapmaprs116840788
1000 genomesrs116840788
hgdprs116840788
ensemblrs116840788
gopubmedrs116840788
geneviewrs116840788
scholarrs116840788
googlers116840788
pharmgkbrs116840788
gwascentralrs116840788
openSNPrs116840788
23andMers116840788
23andMe allrs116840788
SNP Nexus

SNPshotrs116840788
SNPdbers116840788
MSV3drs116840788
GWAS Ctlgrs116840788
Max Magnitude0
ClinVar
Risk rs116840788(A;A)
Alt rs116840788(A;A)
Reference rs116840788(T;T)
Significance Untested
Disease not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.8787228T>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024418.1,


[PMID 15564037] Two novel CAV3 gene mutations in Japanese families.

[PMID 15564037] Two novel CAV3 gene mutations in Japanese families.

OMIM607801
Desc
Variant
Relatedalso