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rs75328625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75328625(A;A)
Make rs75328625(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position65720721
GeneRNASEH2C
is asnp
is mentioned by
dbSNPrs75328625
dbSNP (classic)rs75328625
ClinGenrs75328625
ebirs75328625
HLIrs75328625
Exacrs75328625
Gnomadrs75328625
Varsomers75328625
LitVarrs75328625
Maprs75328625
PheGenIrs75328625
Biobankrs75328625
1000 genomesrs75328625
hgdprs75328625
ensemblrs75328625
geneviewrs75328625
scholarrs75328625
googlers75328625
pharmgkbrs75328625
gwascentralrs75328625
openSNPrs75328625
23andMers75328625
SNPshotrs75328625
SNPdbers75328625
MSV3drs75328625
GWAS Ctlgrs75328625
Max Magnitude0
ClinVar
Risk rs75328625(A;A)
Alt rs75328625(A;A)
Reference Rs75328625(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 3
Variation info
Gene RNASEH2C
CLNDBN Aicardi Goutieres syndrome 3
Reversed 1
HGVS NC_000011.9:g.65488192C>T
CLNSRC
CLNACC