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rs121434519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434519(C;T)
Make rs121434519(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position36897926
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs121434519
ebirs121434519
HLIrs121434519
Exacrs121434519
Varsomers121434519
Maprs121434519
PheGenIrs121434519
hapmaprs121434519
1000 genomesrs121434519
hgdprs121434519
ensemblrs121434519
gopubmedrs121434519
geneviewrs121434519
scholarrs121434519
googlers121434519
pharmgkbrs121434519
gwascentralrs121434519
openSNPrs121434519
23andMers121434519
23andMe allrs121434519
SNP Nexus

SNPshotrs121434519
SNPdbers121434519
MSV3drs121434519
GWAS Ctlgrs121434519
Max Magnitude0
OMIM606754
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434519(T;T)
Alt rs121434519(T;T)
Reference rs121434519(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.35526329G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004286.3,