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rs76091978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs76091978(C;T)
Make rs76091978(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position65720363
GeneRNASEH2C
is asnp
is mentioned by
dbSNPrs76091978
dbSNP (classic)rs76091978
ClinGenrs76091978
ebirs76091978
HLIrs76091978
Exacrs76091978
Gnomadrs76091978
Varsomers76091978
LitVarrs76091978
Maprs76091978
PheGenIrs76091978
Biobankrs76091978
1000 genomesrs76091978
hgdprs76091978
ensemblrs76091978
geneviewrs76091978
scholarrs76091978
googlers76091978
pharmgkbrs76091978
gwascentralrs76091978
openSNPrs76091978
23andMers76091978
SNPshotrs76091978
SNPdbers76091978
MSV3drs76091978
GWAS Ctlgrs76091978
Max Magnitude0
ClinVar
Risk rs76091978(T;T)
Alt rs76091978(T;T)
Reference Rs76091978(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.65487834G>A
CLNSRC
CLNACC