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rs28936685

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28936685(C;C)
Make rs28936685(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745671
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs28936685
ebirs28936685
HLIrs28936685
Exacrs28936685
Varsomers28936685
Maprs28936685
PheGenIrs28936685
hapmaprs28936685
1000 genomesrs28936685
hgdprs28936685
ensemblrs28936685
gopubmedrs28936685
geneviewrs28936685
scholarrs28936685
googlers28936685
pharmgkbrs28936685
gwascentralrs28936685
openSNPrs28936685
23andMers28936685
23andMe allrs28936685
SNP Nexus

SNPshotrs28936685
SNPdbers28936685
MSV3drs28936685
GWAS Ctlgrs28936685
Max Magnitude0
OMIM601253
DescRIPPLING MUSCLE DISEASE 2
Variant0009
Relatedalso
Neighborrs28936686
Distance17


ClinVar
Risk rs28936685(A,C;A,C)
Alt rs28936685(A,C;A,C)
Reference rs28936685(T;T)
Significance Pathogenic
Disease Rippling muscle disease 2 not provided Cardiomyopathy
Variation info
Gene SSUH2 CAV3
CLNDBN Rippling muscle disease 2 not provided Cardiomyopathy
Reversed 0
HGVS NC_000003.11:g.8787357T>C
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008779.2, RCV000024387.1, RCV000157837.1,



[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.