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rs79767407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79767407(A;A)
Make rs79767407(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position12813135
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs79767407
dbSNP (classic)rs79767407
ClinGenrs79767407
ebirs79767407
HLIrs79767407
Exacrs79767407
Gnomadrs79767407
Varsomers79767407
LitVarrs79767407
Maprs79767407
PheGenIrs79767407
Biobankrs79767407
1000 genomesrs79767407
hgdprs79767407
ensemblrs79767407
geneviewrs79767407
scholarrs79767407
googlers79767407
pharmgkbrs79767407
gwascentralrs79767407
openSNPrs79767407
23andMers79767407
SNPshotrs79767407
SNPdbers79767407
MSV3drs79767407
GWAS Ctlgrs79767407
Max Magnitude0
ClinVar
Risk rs79767407(A;A)
Alt rs79767407(A;A)
Reference Rs79767407(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 4
Variation info
Gene RNASEH2A
CLNDBN Aicardi Goutieres syndrome 4
Reversed 0
HGVS NC_000019.9:g.12923949C>A
CLNSRC UniProtKB (protein)
CLNACC RCV000114339.2,