rs104894026

Orientation

minus

Stabilized

minus

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

Make rs104894026(C;T)

Make rs104894026(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

33017501

Gene

NT5C3A

is a	snp
is	mentioned by
dbSNP	rs104894026
dbSNP (classic)	rs104894026
ClinGen	rs104894026
ebi	rs104894026
HLI	rs104894026
Exac	rs104894026
Gnomad	rs104894026
Varsome	rs104894026
LitVar	rs104894026
Map	rs104894026
PheGenI	rs104894026
Biobank	rs104894026
1000 genomes	rs104894026
hgdp	rs104894026
ensembl	rs104894026
geneview	rs104894026
scholar	rs104894026
google	rs104894026
pharmgkb	rs104894026
gwascentral	rs104894026
openSNP	rs104894026
23andMe	rs104894026
SNPshot	rs104894026
SNPdbe	rs104894026
MSV3d	rs104894026
GWAS Ctlg	rs104894026

Max Magnitude

0

OMIM	606224
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894026(T;T)
Alt	rs104894026(T;T)
Reference	Rs104894026(C;C)
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.33057113G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004737.3,