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rs377244188

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs377244188(A;G)
Make rs377244188(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12810402
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs377244188
dbSNP (classic)rs377244188
ClinGenrs377244188
ebirs377244188
HLIrs377244188
Exacrs377244188
Gnomadrs377244188
Varsomers377244188
LitVarrs377244188
Maprs377244188
PheGenIrs377244188
Biobankrs377244188
1000 genomesrs377244188
hgdprs377244188
ensemblrs377244188
geneviewrs377244188
scholarrs377244188
googlers377244188
pharmgkbrs377244188
gwascentralrs377244188
openSNPrs377244188
23andMers377244188
SNPshotrs377244188
SNPdbers377244188
MSV3drs377244188
GWAS Ctlgrs377244188
Max Magnitude0
ClinVar
Risk rs377244188(G;G) rs377244188(T;T)
Alt rs377244188(G;G) rs377244188(T;T)
Reference Rs377244188(A;A)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 4
Variation info
Gene RNASEH2A
CLNDBN Aicardi Goutieres syndrome 4
Reversed 0
HGVS NC_000019.9:g.12921216A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000056306.3,