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rs76436818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76436818(C;T)
Make rs76436818(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12807328
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs76436818
ebirs76436818
HLIrs76436818
Exacrs76436818
Varsomers76436818
Maprs76436818
PheGenIrs76436818
hapmaprs76436818
1000 genomesrs76436818
hgdprs76436818
ensemblrs76436818
gopubmedrs76436818
geneviewrs76436818
scholarrs76436818
googlers76436818
pharmgkbrs76436818
gwascentralrs76436818
openSNPrs76436818
23andMers76436818
23andMe allrs76436818
SNP Nexus

SNPshotrs76436818
SNPdbers76436818
MSV3drs76436818
GWAS Ctlgrs76436818
Max Magnitude0
ClinVar
Risk rs76436818(A,G,T;A,G,T)
Alt rs76436818(A,G,T;A,G,T)
Reference rs76436818(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.12918142C>T
CLNSRC ClinVar
CLNACC RCV000114338.2,