rs397518435

Orientation

minus

Stabilized

minus

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

Make rs397518435(G;T)

Make rs397518435(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

33015871

Gene

NT5C3A

is a	snp
is	mentioned by
dbSNP	rs397518435
dbSNP (classic)	rs397518435
ClinGen	rs397518435
ebi	rs397518435
HLI	rs397518435
Exac	rs397518435
Gnomad	rs397518435
Varsome	rs397518435
LitVar	rs397518435
Map	rs397518435
PheGenI	rs397518435
Biobank	rs397518435
1000 genomes	rs397518435
hgdp	rs397518435
ensembl	rs397518435
geneview	rs397518435
scholar	rs397518435
google	rs397518435
pharmgkb	rs397518435
gwascentral	rs397518435
openSNP	rs397518435
23andMe	rs397518435
SNPshot	rs397518435
SNPdbe	rs397518435
MSV3d	rs397518435
GWAS Ctlg	rs397518435

Max Magnitude

0

ClinVar
Risk	rs397518435(C;C) rs397518435(T;T)
Alt	rs397518435(C;C) rs397518435(T;T)
Reference	Rs397518435(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.33055483C>A; NC_000007.13:g.33055483C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004738.3, RCV000004742.3,