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rs121434520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434520(A;C)
Make rs121434520(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position36935170
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs121434520
ebirs121434520
HLIrs121434520
Exacrs121434520
Varsomers121434520
Maprs121434520
PheGenIrs121434520
hapmaprs121434520
1000 genomesrs121434520
hgdprs121434520
ensemblrs121434520
gopubmedrs121434520
geneviewrs121434520
scholarrs121434520
googlers121434520
pharmgkbrs121434520
gwascentralrs121434520
openSNPrs121434520
23andMers121434520
23andMe allrs121434520
SNP Nexus

SNPshotrs121434520
SNPdbers121434520
MSV3drs121434520
GWAS Ctlgrs121434520
Max Magnitude0
OMIM606754
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121434520(C;C)
Alt rs121434520(C;C)
Reference rs121434520(A;A)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 1
HGVS NC_000020.10:g.35563573T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000004287.3,