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rs77103971

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs77103971(C;T)
Make rs77103971(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position12810323
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs77103971
dbSNP (classic)rs77103971
ClinGenrs77103971
ebirs77103971
HLIrs77103971
Exacrs77103971
Gnomadrs77103971
Varsomers77103971
LitVarrs77103971
Maprs77103971
PheGenIrs77103971
Biobankrs77103971
1000 genomesrs77103971
hgdprs77103971
ensemblrs77103971
geneviewrs77103971
scholarrs77103971
googlers77103971
pharmgkbrs77103971
gwascentralrs77103971
openSNPrs77103971
23andMers77103971
SNPshotrs77103971
SNPdbers77103971
MSV3drs77103971
GWAS Ctlgrs77103971
Max Magnitude0
ClinVar
Risk rs77103971(T;T)
Alt rs77103971(T;T)
Reference Rs77103971(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.12921137C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056305.5,