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rs121434517

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434517(C;T)
Make rs121434517(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position36935105
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs121434517
ebirs121434517
HLIrs121434517
Exacrs121434517
Varsomers121434517
Maprs121434517
PheGenIrs121434517
hapmaprs121434517
1000 genomesrs121434517
hgdprs121434517
ensemblrs121434517
gopubmedrs121434517
geneviewrs121434517
scholarrs121434517
googlers121434517
pharmgkbrs121434517
gwascentralrs121434517
openSNPrs121434517
23andMers121434517
23andMe allrs121434517
SNP Nexus

SNPshotrs121434517
SNPdbers121434517
MSV3drs121434517
GWAS Ctlgrs121434517
Max Magnitude0
OMIM606754
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434517(T;T)
Alt rs121434517(T;T)
Reference rs121434517(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 5
Variation info
Gene SAMHD1
CLNDBN Aicardi Goutieres syndrome 5
Reversed 1
HGVS NC_000020.10:g.35563508G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004282.5,