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rs75326546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs75326546(C;T)
Make rs75326546(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50929510
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs75326546
ebirs75326546
HLIrs75326546
Exacrs75326546
Varsomers75326546
Maprs75326546
PheGenIrs75326546
hapmaprs75326546
1000 genomesrs75326546
hgdprs75326546
ensemblrs75326546
gopubmedrs75326546
geneviewrs75326546
scholarrs75326546
googlers75326546
pharmgkbrs75326546
gwascentralrs75326546
openSNPrs75326546
23andMers75326546
23andMe allrs75326546
SNP Nexus

SNPshotrs75326546
SNPdbers75326546
MSV3drs75326546
GWAS Ctlgrs75326546
Max Magnitude0
ClinVar
Risk rs75326546(T;T)
Alt rs75326546(T;T)
Reference rs75326546(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51503646C>T
CLNSRC
CLNACC