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rs397515480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515480(A;A)
Make rs397515480(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12806742
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs397515480
ebirs397515480
HLIrs397515480
Exacrs397515480
Varsomers397515480
Maprs397515480
PheGenIrs397515480
hapmaprs397515480
1000 genomesrs397515480
hgdprs397515480
ensemblrs397515480
gopubmedrs397515480
geneviewrs397515480
scholarrs397515480
googlers397515480
pharmgkbrs397515480
gwascentralrs397515480
openSNPrs397515480
23andMers397515480
23andMe allrs397515480
SNP Nexus

SNPshotrs397515480
SNPdbers397515480
MSV3drs397515480
GWAS Ctlgrs397515480
Max Magnitude0
ClinVar
Risk rs397515480(A;A)
Alt rs397515480(A;A)
Reference Rs397515480(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.12917556G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056304.5,