rs104894025

Orientation

minus

Stabilized

minus

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

Make rs104894025(A;T)

Make rs104894025(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

33021317

Gene

NT5C3A

is a	snp
is	mentioned by
dbSNP	rs104894025
dbSNP (classic)	rs104894025
ClinGen	rs104894025
ebi	rs104894025
HLI	rs104894025
Exac	rs104894025
Gnomad	rs104894025
Varsome	rs104894025
LitVar	rs104894025
Map	rs104894025
PheGenI	rs104894025
Biobank	rs104894025
1000 genomes	rs104894025
hgdp	rs104894025
ensembl	rs104894025
geneview	rs104894025
scholar	rs104894025
google	rs104894025
pharmgkb	rs104894025
gwascentral	rs104894025
openSNP	rs104894025
23andMe	rs104894025
SNPshot	rs104894025
SNPdbe	rs104894025
MSV3d	rs104894025
GWAS Ctlg	rs104894025

Max Magnitude

0

OMIM	606224
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894025(T;T)
Alt	rs104894025(T;T)
Reference	Rs104894025(A;A)
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.33060929T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004736.3,