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rs515726145

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726145(C;T)
Make rs515726145(T;T)
ReferenceGRCh38 38.1/142
Chromosome20
Position36935104
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726145
ebirs515726145
HLIrs515726145
Exacrs515726145
Varsomers515726145
Maprs515726145
PheGenIrs515726145
hapmaprs515726145
1000 genomesrs515726145
hgdprs515726145
ensemblrs515726145
gopubmedrs515726145
geneviewrs515726145
scholarrs515726145
googlers515726145
pharmgkbrs515726145
gwascentralrs515726145
openSNPrs515726145
23andMers515726145
23andMe allrs515726145
SNP Nexus

SNPshotrs515726145
SNPdbers515726145
MSV3drs515726145
GWAS Ctlgrs515726145
Max Magnitude0
ClinVar
Risk rs515726145(T;T)
Alt rs515726145(T;T)
Reference rs515726145(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.35563507C>T
CLNSRC ClinVar
CLNACC RCV000114353.2,