rs2228075

minus

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

Make rs2228075(A;A)

Make rs2228075(A;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

128394575

Gene

IMPDH1

is a	snp
is	mentioned by
dbSNP	rs2228075
dbSNP (classic)	rs2228075
ClinGen	rs2228075
ebi	rs2228075
HLI	rs2228075
Exac	rs2228075
Gnomad	rs2228075
Varsome	rs2228075
LitVar	rs2228075
Map	rs2228075
PheGenI	rs2228075
Biobank	rs2228075
1000 genomes	rs2228075
hgdp	rs2228075
ensembl	rs2228075
geneview	rs2228075
scholar	rs2228075
google	rs2228075
pharmgkb	rs2228075
gwascentral	rs2228075
openSNP	rs2228075
23andMe	rs2228075
SNPshot	rs2228075
SNPdbe	rs2228075
MSV3d	rs2228075
GWAS Ctlg	rs2228075

GMAF

0.2787

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

[PMID 20649757 ] Inosine 5'-monophosphate dehydrogenase 1 haplotypes and association with mycophenolate mofetil gastrointestinal intolerance in pediatric heart transplant patients

[PMID 20061166] Genetic polymorphisms influence mycophenolate mofetil-related adverse events in pediatric heart transplant patients.

ClinVar
Risk	rs2228075(A;A) rs2228075(C;C)
Alt	rs2228075(A;A) rs2228075(C;C)
Reference	Rs2228075(G;G)
Significance	Probable-non-pathogenic
Disease	Retinitis Pigmentosa Leber congenital amaurosis
Variation	info
Gene	IMPDH1
CLNDBN	Retinitis Pigmentosa, Dominant Leber congenital amaurosis
Reversed	1
HGVS	NC_000007.13:g.128034629C>T
CLNSRC
CLNACC	RCV000309320.1, RCV000368617.1,