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rs515726141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs515726141(C;C)
Make rs515726141(C;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position36904251
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726141
dbSNP (classic)rs515726141
ClinGenrs515726141
ebirs515726141
HLIrs515726141
Exacrs515726141
Gnomadrs515726141
Varsomers515726141
LitVarrs515726141
Maprs515726141
PheGenIrs515726141
Biobankrs515726141
1000 genomesrs515726141
hgdprs515726141
ensemblrs515726141
geneviewrs515726141
scholarrs515726141
googlers515726141
pharmgkbrs515726141
gwascentralrs515726141
openSNPrs515726141
23andMers515726141
SNPshotrs515726141
SNPdbers515726141
MSV3drs515726141
GWAS Ctlgrs515726141
Max Magnitude0
ClinVar
Risk rs515726141(C;C)
Alt rs515726141(C;C)
Reference Rs515726141(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.35532654T>C
CLNSRC ClinVar
CLNACC RCV000114348.2,