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rs730880422

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880422(C;T)
Make rs730880422(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position8745853
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs730880422
dbSNP (classic)rs730880422
ClinGenrs730880422
ebirs730880422
HLIrs730880422
Exacrs730880422
Gnomadrs730880422
Varsomers730880422
LitVarrs730880422
Maprs730880422
PheGenIrs730880422
Biobankrs730880422
1000 genomesrs730880422
hgdprs730880422
ensemblrs730880422
geneviewrs730880422
scholarrs730880422
googlers730880422
pharmgkbrs730880422
gwascentralrs730880422
openSNPrs730880422
23andMers730880422
SNPshotrs730880422
SNPdbers730880422
MSV3drs730880422
GWAS Ctlgrs730880422
Max Magnitude0
ClinVar
Risk rs730880422(T;T)
Alt rs730880422(T;T)
Reference Rs730880422(C;C)
Significance Probable-Pathogenic
Disease not provided not specified
Variation info
Gene SSUH2 CAV3
CLNDBN not provided not specified
Reversed 0
HGVS NC_000003.11:g.8787539C>T
CLNSRC
CLNACC RCV000157841.1, RCV000223776.1,