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rs515726142

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs515726142(A;A)
Make rs515726142(A;C)
ReferenceGRCh38 38.1/142
Chromosome20
Position36904156
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726142
ebirs515726142
HLIrs515726142
Exacrs515726142
Varsomers515726142
Maprs515726142
PheGenIrs515726142
hapmaprs515726142
1000 genomesrs515726142
hgdprs515726142
ensemblrs515726142
gopubmedrs515726142
geneviewrs515726142
scholarrs515726142
googlers515726142
pharmgkbrs515726142
gwascentralrs515726142
openSNPrs515726142
23andMers515726142
23andMe allrs515726142
SNP Nexus

SNPshotrs515726142
SNPdbers515726142
MSV3drs515726142
GWAS Ctlgrs515726142
Max Magnitude0
ClinVar
Risk rs515726142(A,T;A,T)
Alt rs515726142(A,T;A,T)
Reference rs515726142(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.35532559C>A
CLNSRC ClinVar
CLNACC RCV000114349.2,