rs121434478

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs121434478(A;G)

Make rs121434478(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

215344828

Gene

ATIC

is a	snp
is	mentioned by
dbSNP	rs121434478
dbSNP (classic)	rs121434478
ClinGen	rs121434478
ebi	rs121434478
HLI	rs121434478
Exac	rs121434478
Gnomad	rs121434478
Varsome	rs121434478
LitVar	rs121434478
Map	rs121434478
PheGenI	rs121434478
Biobank	rs121434478
1000 genomes	rs121434478
hgdp	rs121434478
ensembl	rs121434478
geneview	rs121434478
scholar	rs121434478
google	rs121434478
pharmgkb	rs121434478
gwascentral	rs121434478
openSNP	rs121434478
23andMe	rs121434478
SNPshot	rs121434478
SNPdbe	rs121434478
MSV3d	rs121434478
GWAS Ctlg	rs121434478

Max Magnitude

0

OMIM	601731
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000008253.3,