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rs121434516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434516(A;A)
Make rs121434516(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position36930760
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs121434516
ebirs121434516
HLIrs121434516
Exacrs121434516
Varsomers121434516
Maprs121434516
PheGenIrs121434516
hapmaprs121434516
1000 genomesrs121434516
hgdprs121434516
ensemblrs121434516
gopubmedrs121434516
geneviewrs121434516
scholarrs121434516
googlers121434516
pharmgkbrs121434516
gwascentralrs121434516
openSNPrs121434516
23andMers121434516
23andMe allrs121434516
SNP Nexus

SNPshotrs121434516
SNPdbers121434516
MSV3drs121434516
GWAS Ctlgrs121434516
Max Magnitude0
OMIM606754
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434516(A;A)
Alt rs121434516(A;A)
Reference rs121434516(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 1
HGVS NC_000020.10:g.35559163C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004281.5,