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rs515726143

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726143(C;G)
Make rs515726143(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position36897960
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726143
ebirs515726143
HLIrs515726143
Exacrs515726143
Varsomers515726143
Maprs515726143
PheGenIrs515726143
hapmaprs515726143
1000 genomesrs515726143
hgdprs515726143
ensemblrs515726143
gopubmedrs515726143
geneviewrs515726143
scholarrs515726143
googlers515726143
pharmgkbrs515726143
gwascentralrs515726143
openSNPrs515726143
23andMers515726143
23andMe allrs515726143
SNP Nexus

SNPshotrs515726143
SNPdbers515726143
MSV3drs515726143
GWAS Ctlgrs515726143
Max Magnitude0
ClinVar
Risk rs515726143(G;G)
Alt rs515726143(G;G)
Reference rs515726143(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 0
HGVS NC_000020.10:g.35526363C>G
CLNSRC ClinVar
CLNACC RCV000114350.2,