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rs121434518

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434518(C;T)
Make rs121434518(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position36935093
GeneSAMHD1
is asnp
is mentioned by
dbSNPrs121434518
ebirs121434518
HLIrs121434518
Exacrs121434518
Varsomers121434518
Maprs121434518
PheGenIrs121434518
hapmaprs121434518
1000 genomesrs121434518
hgdprs121434518
ensemblrs121434518
gopubmedrs121434518
geneviewrs121434518
scholarrs121434518
googlers121434518
pharmgkbrs121434518
gwascentralrs121434518
openSNPrs121434518
23andMers121434518
23andMe allrs121434518
SNP Nexus

SNPshotrs121434518
SNPdbers121434518
MSV3drs121434518
GWAS Ctlgrs121434518
Max Magnitude0
OMIM606754
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434518(T;T)
Alt rs121434518(T;T)
Reference rs121434518(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.35563496G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004285.3,