rs397518438

Orientation

minus

Stabilized

minus

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

Make rs397518438(-;-)

Make rs397518438(-;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

33017454

Gene

NT5C3A

is a	snp
is	mentioned by
dbSNP	rs397518438
dbSNP (classic)	rs397518438
ClinGen	rs397518438
ebi	rs397518438
HLI	rs397518438
Exac	rs397518438
Gnomad	rs397518438
Varsome	rs397518438
LitVar	rs397518438
Map	rs397518438
PheGenI	rs397518438
Biobank	rs397518438
1000 genomes	rs397518438
hgdp	rs397518438
ensembl	rs397518438
geneview	rs397518438
scholar	rs397518438
google	rs397518438
pharmgkb	rs397518438
gwascentral	rs397518438
openSNP	rs397518438
23andMe	rs397518438
SNPshot	rs397518438
SNPdbe	rs397518438
MSV3d	rs397518438
GWAS Ctlg	rs397518438

Max Magnitude

0

ClinVar
Risk	rs397518438(-;-)
Alt	rs397518438(-;-)
Reference	Rs397518438(G;G)
Significance	Pathogenic
Disease	Uridine 5-prime monophosphate hydrolase deficiency
Variation	info
Gene	NT5C3A
CLNDBN	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
Reversed	1
HGVS	NC_000007.13:g.33057066delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004744.3,