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rs2372536

From SNPedia

Orientationplus
Stabilizedplus
Make rs2372536(C;C)
Make rs2372536(C;G)
Make rs2372536(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position215325297
GeneATIC
is asnp
is mentioned by
dbSNPrs2372536
ebirs2372536
HLIrs2372536
Exacrs2372536
Varsomers2372536
Maprs2372536
PheGenIrs2372536
hapmaprs2372536
1000 genomesrs2372536
hgdprs2372536
ensemblrs2372536
gopubmedrs2372536
geneviewrs2372536
scholarrs2372536
googlers2372536
pharmgkbrs2372536
gwascentralrs2372536
openSNPrs2372536
23andMers2372536
23andMe allrs2372536
SNP Nexus

SNPshotrs2372536
SNPdbers2372536
MSV3drs2372536
GWAS Ctlgrs2372536
GMAF0.225
Max Magnitude
? (C;C) (C;G) (G;G) 28


Venter snp
Source plos
Gene ATIC
allele G
frequency 0.275
sift TOLERATED
HuRef 1103658362519
Disease Association Defects in ATIC are the cause of AICA-ribosuria (MIM:608688); also known as AICA-ribosiduria. It is a neurologically devasting inborn error of purine biosynthesis. AICA-ribosuria patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide (also known as ZMP) and its derivatives in erythrocytes and fibroblasts. AICA-ribosuria causes profound mental retardation, epilepsy, dysmorphisc features and congenital blindness.






[PMID 22140583OA-icon.png] A Genetic Signature of Spina Bifida Risk from Pathway-Informed Comprehensive Gene-Variant Analysis


[PMID 19193698OA-icon.png] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.


GET Evidence
ATIC-T116S
aa_change Thr116Ser
aa_change_short T116S
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.24763
summary