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rs75718910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75718910(A;A)
Make rs75718910(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position12813149
GeneRNASEH2A
is asnp
is mentioned by
dbSNPrs75718910
ebirs75718910
HLIrs75718910
Exacrs75718910
Varsomers75718910
Maprs75718910
PheGenIrs75718910
hapmaprs75718910
1000 genomesrs75718910
hgdprs75718910
ensemblrs75718910
gopubmedrs75718910
geneviewrs75718910
scholarrs75718910
googlers75718910
pharmgkbrs75718910
gwascentralrs75718910
openSNPrs75718910
23andMers75718910
23andMe allrs75718910
SNP Nexus

SNPshotrs75718910
SNPdbers75718910
MSV3drs75718910
GWAS Ctlgrs75718910
Max Magnitude0
ClinVar
Risk rs75718910(A;A)
Alt rs75718910(A;A)
Reference rs75718910(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.12923963G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000056303.5,