rs121964923

Orientation

minus

Stabilized

minus

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

Make rs121964923(A;G)

Make rs121964923(G;G)

Reference

GRCh38 38.1/142

Chromosome

8

Position

104428071

Gene	DPYS, LOC105375692

is a	snp
is	mentioned by
dbSNP	rs121964923
dbSNP (classic)	rs121964923
ClinGen	rs121964923
ebi	rs121964923
HLI	rs121964923
Exac	rs121964923
Gnomad	rs121964923
Varsome	rs121964923
LitVar	rs121964923
Map	rs121964923
PheGenI	rs121964923
Biobank	rs121964923
1000 genomes	rs121964923
hgdp	rs121964923
ensembl	rs121964923
geneview	rs121964923
scholar	rs121964923
google	rs121964923
pharmgkb	rs121964923
gwascentral	rs121964923
openSNP	rs121964923
23andMe	rs121964923
SNPshot	rs121964923
SNPdbe	rs121964923
MSV3d	rs121964923
GWAS Ctlg	rs121964923

GMAF

0.001377

Max Magnitude

0

OMIM	613326
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121964923(G;G)
Alt	rs121964923(G;G)
Reference	Rs121964923(A;A)
Significance	Pathogenic
Disease	Dihydropyrimidinase deficiency
Variation	info
Gene	DPYS
CLNDBN	Dihydropyrimidinase deficiency
Reversed	1
HGVS	NC_000008.10:g.105440299T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000207.3,