Have questions? Visit https://www.reddit.com/r/SNPedia

rs28936686

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28936686(A;A)
Make rs28936686(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745688
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs28936686
ebirs28936686
HLIrs28936686
Exacrs28936686
Varsomers28936686
Maprs28936686
PheGenIrs28936686
hapmaprs28936686
1000 genomesrs28936686
hgdprs28936686
ensemblrs28936686
gopubmedrs28936686
geneviewrs28936686
scholarrs28936686
googlers28936686
pharmgkbrs28936686
gwascentralrs28936686
openSNPrs28936686
23andMers28936686
23andMe allrs28936686
SNP Nexus

SNPshotrs28936686
SNPdbers28936686
MSV3drs28936686
GWAS Ctlgrs28936686
Max Magnitude0
OMIM601253
DescRIPPLING MUSCLE DISEASE 2, AUTOSOMAL RECESSIVE
Variant0010
Relatedalso
Neighborrs28936685
Distance17


ClinVar
Risk rs28936686(A,T;A,T)
Alt rs28936686(A,T;A,T)
Reference rs28936686(G;G)
Significance Pathogenic
Disease Rippling muscle disease 2 not provided Long QT syndrome
Variation info
Gene SSUH2 CAV3
CLNDBN Rippling muscle disease 2, autosomal recessive not provided Long QT syndrome
Reversed 0
HGVS NC_000003.11:g.8787374G>A; NC_000003.11:g.8787374G>T
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008780.2, RCV000024388.1, RCV000234612.1, RCV000157838.2,



[PMID 15668980] Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.


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


[PMID 19697367] Rippling muscle disease: variable phenotype in a family with five afflicted members.