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rs75186889

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75186889(-;-)
Make rs75186889(-;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position50927479
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs75186889
dbSNP (classic)rs75186889
ClinGenrs75186889
ebirs75186889
HLIrs75186889
Exacrs75186889
Gnomadrs75186889
Varsomers75186889
LitVarrs75186889
Maprs75186889
PheGenIrs75186889
Biobankrs75186889
1000 genomesrs75186889
hgdprs75186889
ensemblrs75186889
geneviewrs75186889
scholarrs75186889
googlers75186889
pharmgkbrs75186889
gwascentralrs75186889
openSNPrs75186889
23andMers75186889
SNPshotrs75186889
SNPdbers75186889
MSV3drs75186889
GWAS Ctlgrs75186889
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs75186889(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51501615delG
CLNSRC
CLNACC