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rs121434478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434478(A;G)
Make rs121434478(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position215344828
GeneATIC, DNAPTP3
is asnp
is mentioned by
dbSNPrs121434478
ebirs121434478
HLIrs121434478
Exacrs121434478
Varsomers121434478
Maprs121434478
PheGenIrs121434478
hapmaprs121434478
1000 genomesrs121434478
hgdprs121434478
ensemblrs121434478
gopubmedrs121434478
geneviewrs121434478
scholarrs121434478
googlers121434478
pharmgkbrs121434478
gwascentralrs121434478
openSNPrs121434478
23andMers121434478
23andMe allrs121434478
SNP Nexus

SNPshotrs121434478
SNPdbers121434478
MSV3drs121434478
GWAS Ctlgrs121434478
Max Magnitude0
OMIM601731
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434478(G;G)
Alt rs121434478(G;G)
Reference rs121434478(A;A)
Significance Pathogenic
Disease AICAR transformylase/IMP cyclohydrolase deficiency
Variation info
Gene ATIC
CLNDBN AICAR transformylase/IMP cyclohydrolase deficiency
Reversed 0
HGVS NC_000002.11:g.216209551A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008253.3,