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rs79843600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79843600(C;T)
Make rs79843600(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12813164
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs79843600
ebirs79843600
HLIrs79843600
Exacrs79843600
Varsomers79843600
Maprs79843600
PheGenIrs79843600
hapmaprs79843600
1000 genomesrs79843600
hgdprs79843600
ensemblrs79843600
gopubmedrs79843600
geneviewrs79843600
scholarrs79843600
googlers79843600
pharmgkbrs79843600
gwascentralrs79843600
openSNPrs79843600
23andMers79843600
23andMe allrs79843600
SNP Nexus

SNPshotrs79843600
SNPdbers79843600
MSV3drs79843600
GWAS Ctlgrs79843600
Max Magnitude0
ClinVar
Risk rs79843600(G,T;G,T)
Alt rs79843600(G,T;G,T)
Reference rs79843600(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.12923978C>T
CLNSRC ClinVar
CLNACC RCV000114341.2,