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rs75146158

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs75146158(A;T)
Make rs75146158(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65720085
GeneKAT5, RNASEH2C
is asnp
is mentioned by
dbSNPrs75146158
ebirs75146158
HLIrs75146158
Exacrs75146158
Varsomers75146158
Maprs75146158
PheGenIrs75146158
hapmaprs75146158
1000 genomesrs75146158
hgdprs75146158
ensemblrs75146158
gopubmedrs75146158
geneviewrs75146158
scholarrs75146158
googlers75146158
pharmgkbrs75146158
gwascentralrs75146158
openSNPrs75146158
23andMers75146158
23andMe allrs75146158
SNP Nexus

SNPshotrs75146158
SNPdbers75146158
MSV3drs75146158
GWAS Ctlgrs75146158
Max Magnitude0
OMIM610330
Desc
Variant0002
Relatedalso
ClinVar
Risk rs75146158(T;T)
Alt rs75146158(T;T)
Reference rs75146158(A;A)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 3
Variation info
Gene KAT5 RNASEH2C
CLNDBN Aicardi Goutieres syndrome 3
Reversed 1
HGVS NC_000011.9:g.65487556T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001323.3,


[PMID 16845400] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.