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rs78464826

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78464826(C;T)
Make rs78464826(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65720062
GeneKAT5, RNASEH2C
is asnp
is mentioned by
dbSNPrs78464826
ebirs78464826
HLIrs78464826
Exacrs78464826
Varsomers78464826
Maprs78464826
PheGenIrs78464826
hapmaprs78464826
1000 genomesrs78464826
hgdprs78464826
ensemblrs78464826
gopubmedrs78464826
geneviewrs78464826
scholarrs78464826
googlers78464826
pharmgkbrs78464826
gwascentralrs78464826
openSNPrs78464826
23andMers78464826
23andMe allrs78464826
SNP Nexus

SNPshotrs78464826
SNPdbers78464826
MSV3drs78464826
GWAS Ctlgrs78464826
Max Magnitude0
ClinVar
Risk rs78464826(T;T)
Alt rs78464826(T;T)
Reference rs78464826(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 3
Variation info
Gene RNASEH2C KAT5
CLNDBN Aicardi Goutieres syndrome 3
Reversed 1
HGVS NC_000011.9:g.65487533G>A
CLNSRC
CLNACC