rs397518437

Orientation

minus

Stabilized

minus

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

Make rs397518437(-;A)

Make rs397518437(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

33019678

Gene

NT5C3A

is a	snp
is	mentioned by
dbSNP	rs397518437
dbSNP (classic)	rs397518437
ClinGen	rs397518437
ebi	rs397518437
HLI	rs397518437
Exac	rs397518437
Gnomad	rs397518437
Varsome	rs397518437
LitVar	rs397518437
Map	rs397518437
PheGenI	rs397518437
Biobank	rs397518437
1000 genomes	rs397518437
hgdp	rs397518437
ensembl	rs397518437
geneview	rs397518437
scholar	rs397518437
google	rs397518437
pharmgkb	rs397518437
gwascentral	rs397518437
openSNP	rs397518437
23andMe	rs397518437
SNPshot	rs397518437
SNPdbe	rs397518437
MSV3d	rs397518437
GWAS Ctlg	rs397518437

Max Magnitude

0

ClinVar
Risk	rs397518437(A;A)
Alt	rs397518437(A;A)
Reference	Rs397518437(-;-)
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.33059291dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004741.3,