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rs886044587

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GCAGAAGA;GCAGAAGA) 0 common in clinvar
Chromosome3
Position8733886
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs886044587
dbSNP (classic)rs886044587
ClinGenrs886044587
ebirs886044587
HLIrs886044587
Exacrs886044587
Gnomadrs886044587
Varsomers886044587
LitVarrs886044587
Maprs886044587
PheGenIrs886044587
Biobankrs886044587
1000 genomesrs886044587
hgdprs886044587
ensemblrs886044587
geneviewrs886044587
scholarrs886044587
googlers886044587
pharmgkbrs886044587
gwascentralrs886044587
openSNPrs886044587
23andMers886044587
23andMe allrs886044587
SNPshotrs886044587
SNPdbers886044587
MSV3drs886044587
GWAS Ctlgrs886044587
Max Magnitude0
ClinVar
Risk rs886044587(-;-)
Alt rs886044587(-;-)
Reference Rs886044587(GCAGAAGA;GCAGAAGA)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy Long QT syndrome
Variation info
Gene SSUH2 CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C Long QT syndrome
Reversed 0
HGVS NC_000003.11:g.8775572_8775579delGAAGAGCA
CLNSRC
CLNACC RCV000381159.1, RCV000465696.1,