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rs75325951

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs75325951(G;G)
Make rs75325951(G;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50929517
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs75325951
dbSNP (classic)rs75325951
ClinGenrs75325951
ebirs75325951
HLIrs75325951
Exacrs75325951
Gnomadrs75325951
Varsomers75325951
LitVarrs75325951
Maprs75325951
PheGenIrs75325951
Biobankrs75325951
1000 genomesrs75325951
hgdprs75325951
ensemblrs75325951
geneviewrs75325951
scholarrs75325951
googlers75325951
pharmgkbrs75325951
gwascentralrs75325951
openSNPrs75325951
23andMers75325951
SNPshotrs75325951
SNPdbers75325951
MSV3drs75325951
GWAS Ctlgrs75325951
Max Magnitude0
ClinVar
Risk rs75325951(G;G)
Alt rs75325951(G;G)
Reference Rs75325951(T;T)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51503653T>G
CLNSRC
CLNACC