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rs121434521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434521(A;G)
Make rs121434521(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position36919456
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs121434521
ebirs121434521
HLIrs121434521
Exacrs121434521
Varsomers121434521
Maprs121434521
PheGenIrs121434521
hapmaprs121434521
1000 genomesrs121434521
hgdprs121434521
ensemblrs121434521
gopubmedrs121434521
geneviewrs121434521
scholarrs121434521
googlers121434521
pharmgkbrs121434521
gwascentralrs121434521
openSNPrs121434521
23andMers121434521
23andMe allrs121434521
SNP Nexus

SNPshotrs121434521
SNPdbers121434521
MSV3drs121434521
GWAS Ctlgrs121434521
Max Magnitude0
OMIM606754
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434521(G;G)
Alt rs121434521(G;G)
Reference rs121434521(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.35547859T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004288.5,