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rs75184679

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs75184679(A;A)
Make rs75184679(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position50945445
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs75184679
ebirs75184679
HLIrs75184679
Exacrs75184679
Varsomers75184679
Maprs75184679
PheGenIrs75184679
hapmaprs75184679
1000 genomesrs75184679
hgdprs75184679
ensemblrs75184679
gopubmedrs75184679
geneviewrs75184679
scholarrs75184679
googlers75184679
pharmgkbrs75184679
gwascentralrs75184679
openSNPrs75184679
23andMers75184679
23andMe allrs75184679
SNP Nexus

SNPshotrs75184679
SNPdbers75184679
MSV3drs75184679
GWAS Ctlgrs75184679
Max Magnitude0
OMIM610326
Desc
Variant0001
Relatedalso
ClinVar
Risk rs75184679(A;A)
Alt rs75184679(A;A)
Reference rs75184679(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.51519581G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001324.4,


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