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rs199744595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199744595(C;T)
Make rs199744595(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position90404693
GeneCALM1
is asnp
is mentioned by
dbSNPrs199744595
dbSNP (classic)rs199744595
ClinGenrs199744595
ebirs199744595
HLIrs199744595
Exacrs199744595
Gnomadrs199744595
Varsomers199744595
LitVarrs199744595
Maprs199744595
PheGenIrs199744595
Biobankrs199744595
1000 genomesrs199744595
hgdprs199744595
ensemblrs199744595
geneviewrs199744595
scholarrs199744595
googlers199744595
pharmgkbrs199744595
gwascentralrs199744595
openSNPrs199744595
23andMers199744595
SNPshotrs199744595
SNPdbers199744595
MSV3drs199744595
GWAS Ctlgrs199744595
Max Magnitude0
ClinVar
Risk rs199744595(G;G) rs199744595(T;T)
Alt rs199744595(G;G) rs199744595(T;T)
Reference Rs199744595(C;C)
Significance Pathogenic
Disease Long QT syndrome 14
Variation info
Gene CALM1
CLNDBN Long QT syndrome 14
Reversed 0
HGVS NC_000014.8:g.90871037C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000162063.4,