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rs78635798

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78635798(C;T)
Make rs78635798(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65720385
GeneRNASEH2C
is asnp
is mentioned by
dbSNPrs78635798
ebirs78635798
HLIrs78635798
Exacrs78635798
Varsomers78635798
Maprs78635798
PheGenIrs78635798
hapmaprs78635798
1000 genomesrs78635798
hgdprs78635798
ensemblrs78635798
gopubmedrs78635798
geneviewrs78635798
scholarrs78635798
googlers78635798
pharmgkbrs78635798
gwascentralrs78635798
openSNPrs78635798
23andMers78635798
23andMe allrs78635798
SNP Nexus

SNPshotrs78635798
SNPdbers78635798
MSV3drs78635798
GWAS Ctlgrs78635798
Max Magnitude0
OMIM610330
Desc
Variant0001
Relatedalso
ClinVar
Risk rs78635798(T;T)
Alt rs78635798(T;T)
Reference rs78635798(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 3
Variation info
Gene RNASEH2C
CLNDBN Aicardi Goutieres syndrome 3
Reversed 1
HGVS NC_000011.9:g.65487856G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001322.3,


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