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rs515726144

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CATGGATAGGAT;CATGGATAGGAT) 0 common in clinvar
Make rs515726144(-;-)
Make rs515726144(-;CATGGATAGGAT)
ReferenceGRCh38 38.1/142
Chromosome20
Position36935168
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs515726144
ebirs515726144
HLIrs515726144
Exacrs515726144
Varsomers515726144
Maprs515726144
PheGenIrs515726144
hapmaprs515726144
1000 genomesrs515726144
hgdprs515726144
ensemblrs515726144
gopubmedrs515726144
geneviewrs515726144
scholarrs515726144
googlers515726144
pharmgkbrs515726144
gwascentralrs515726144
openSNPrs515726144
23andMers515726144
23andMe allrs515726144
SNP Nexus

SNPshotrs515726144
SNPdbers515726144
MSV3drs515726144
GWAS Ctlgrs515726144
Max Magnitude0
ClinVar
Risk rs515726144(;)
Alt rs515726144(;)
Reference rs515726144(CATGGATAGGAT;CATGGATAGGAT)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 0
HGVS NC_000020.10:g.35563571_35563582delCATGGATAGGAT
CLNSRC ClinVar
CLNACC RCV000114351.2,