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rs797044929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797044929(C;T)
Make rs797044929(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position4912580
GeneKCNA1
is asnp
is mentioned by
dbSNPrs797044929
dbSNP (classic)rs797044929
ClinGenrs797044929
ebirs797044929
HLIrs797044929
Exacrs797044929
Gnomadrs797044929
Varsomers797044929
LitVarrs797044929
Maprs797044929
PheGenIrs797044929
Biobankrs797044929
1000 genomesrs797044929
hgdprs797044929
ensemblrs797044929
geneviewrs797044929
scholarrs797044929
googlers797044929
pharmgkbrs797044929
gwascentralrs797044929
openSNPrs797044929
23andMers797044929
SNPshotrs797044929
SNPdbers797044929
MSV3drs797044929
GWAS Ctlgrs797044929
Max Magnitude0
ClinVar
Risk rs797044929(T;T)
Alt rs797044929(T;T)
Reference Rs797044929(C;C)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene KCNA1
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000012.11:g.5021746C>T
CLNSRC
CLNACC RCV000190768.1,