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rs515726139

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs515726139(A;G)
Make rs515726139(G;G)
ReferenceGRCh38 38.1/142
Chromosome20
Position36912509
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726139
ebirs515726139
HLIrs515726139
Exacrs515726139
Varsomers515726139
Maprs515726139
PheGenIrs515726139
hapmaprs515726139
1000 genomesrs515726139
hgdprs515726139
ensemblrs515726139
gopubmedrs515726139
geneviewrs515726139
scholarrs515726139
googlers515726139
pharmgkbrs515726139
gwascentralrs515726139
openSNPrs515726139
23andMers515726139
23andMe allrs515726139
SNP Nexus

SNPshotrs515726139
SNPdbers515726139
MSV3drs515726139
GWAS Ctlgrs515726139
Max Magnitude0
ClinVar
Risk rs515726139(G;G)
Alt rs515726139(G;G)
Reference rs515726139(A;A)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 0
HGVS NC_000020.10:g.35540912A>G
CLNSRC ClinVar
CLNACC RCV000114345.2,