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rs515726146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs515726146(-;-)
Make rs515726146(-;C)
Make rs515726146(C;C)
ReferenceGRCh38 38.1/142
Chromosome20
Position36927228
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726146
ebirs515726146
HLIrs515726146
Exacrs515726146
Varsomers515726146
Maprs515726146
PheGenIrs515726146
hapmaprs515726146
1000 genomesrs515726146
hgdprs515726146
ensemblrs515726146
gopubmedrs515726146
geneviewrs515726146
scholarrs515726146
googlers515726146
pharmgkbrs515726146
gwascentralrs515726146
openSNPrs515726146
23andMers515726146
23andMe allrs515726146
SNP Nexus

SNPshotrs515726146
SNPdbers515726146
MSV3drs515726146
GWAS Ctlgrs515726146
Max Magnitude0
ClinVar
Risk rs515726146(C;C)
Alt rs515726146(C;C)
Reference rs515726146(;)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 0
HGVS NC_000020.10:g.35555631_35555632insC
CLNSRC ClinVar
CLNACC RCV000114354.2,