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rs74555752

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74555752(G;G)
Make rs74555752(G;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50945470
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs74555752
ebirs74555752
HLIrs74555752
Exacrs74555752
Varsomers74555752
Maprs74555752
PheGenIrs74555752
hapmaprs74555752
1000 genomesrs74555752
hgdprs74555752
ensemblrs74555752
gopubmedrs74555752
geneviewrs74555752
scholarrs74555752
googlers74555752
pharmgkbrs74555752
gwascentralrs74555752
openSNPrs74555752
23andMers74555752
23andMe allrs74555752
SNP Nexus

SNPshotrs74555752
SNPdbers74555752
MSV3drs74555752
GWAS Ctlgrs74555752
Max Magnitude0
OMIM610326
Desc
Variant0002
Relatedalso
ClinVar
Risk rs74555752(G;G)
Alt rs74555752(G;G)
Reference rs74555752(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.51519606T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001325.3,


[PMID 16845400] Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.