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rs76857106

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs76857106(A;A)
Make rs76857106(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12806782
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs76857106
ebirs76857106
HLIrs76857106
Exacrs76857106
Varsomers76857106
Maprs76857106
PheGenIrs76857106
hapmaprs76857106
1000 genomesrs76857106
hgdprs76857106
ensemblrs76857106
gopubmedrs76857106
geneviewrs76857106
scholarrs76857106
googlers76857106
pharmgkbrs76857106
gwascentralrs76857106
openSNPrs76857106
23andMers76857106
23andMe allrs76857106
SNP Nexus

SNPshotrs76857106
SNPdbers76857106
MSV3drs76857106
GWAS Ctlgrs76857106
Max Magnitude0
OMIM606034
Desc
Variant0001
Relatedalso
ClinVar
Risk rs76857106(A;A)
Alt rs76857106(A;A)
Reference rs76857106(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 4
Variation info
Gene RNASEH2A
CLNDBN Aicardi Goutieres syndrome 4
Reversed 0
HGVS NC_000019.9:g.12917596G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004904.4,


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