rs104894029

Orientation

minus

Stabilized

minus

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

Make rs104894029(C;C)

Make rs104894029(C;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

33015741

Gene

NT5C3A

is a	snp
is	mentioned by
dbSNP	rs104894029
dbSNP (classic)	rs104894029
ClinGen	rs104894029
ebi	rs104894029
HLI	rs104894029
Exac	rs104894029
Gnomad	rs104894029
Varsome	rs104894029
LitVar	rs104894029
Map	rs104894029
PheGenI	rs104894029
Biobank	rs104894029
1000 genomes	rs104894029
hgdp	rs104894029
ensembl	rs104894029
geneview	rs104894029
scholar	rs104894029
google	rs104894029
pharmgkb	rs104894029
gwascentral	rs104894029
openSNP	rs104894029
23andMe	rs104894029
SNPshot	rs104894029
SNPdbe	rs104894029
MSV3d	rs104894029
GWAS Ctlg	rs104894029

Max Magnitude

0

OMIM	606224
Desc
Variant	0010
Related	also

ClinVar
Risk	rs104894029(C;C)
Alt	rs104894029(C;C)
Reference	Rs104894029(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.33055353C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004745.3,