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rs515726140

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726140(C;C)
Make rs515726140(C;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position36912462
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726140
ebirs515726140
HLIrs515726140
Exacrs515726140
Varsomers515726140
Maprs515726140
PheGenIrs515726140
hapmaprs515726140
1000 genomesrs515726140
hgdprs515726140
ensemblrs515726140
gopubmedrs515726140
geneviewrs515726140
scholarrs515726140
googlers515726140
pharmgkbrs515726140
gwascentralrs515726140
openSNPrs515726140
23andMers515726140
23andMe allrs515726140
SNP Nexus

SNPshotrs515726140
SNPdbers515726140
MSV3drs515726140
GWAS Ctlgrs515726140
Max Magnitude0
ClinVar
Risk rs515726140(C;C)
Alt rs515726140(C;C)
Reference rs515726140(T;T)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 0
HGVS NC_000020.10:g.35540865T>C
CLNSRC ClinVar
CLNACC RCV000114346.2,