rs121908008

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	sulfite oxidase deficiency (likely)
(A;C)	1.5	carrier of a sulfite oxidase deficiency allele
(C;C)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

12

Position

56004183

Gene

SUOX

is a	snp
is	mentioned by
dbSNP	rs121908008
dbSNP (classic)	rs121908008
ClinGen	rs121908008
ebi	rs121908008
HLI	rs121908008
Exac	rs121908008
Gnomad	rs121908008
Varsome	rs121908008
LitVar	rs121908008
Map	rs121908008
PheGenI	rs121908008
Biobank	rs121908008
1000 genomes	rs121908008
hgdp	rs121908008
ensembl	rs121908008
geneview	rs121908008
scholar	rs121908008
google	rs121908008
pharmgkb	rs121908008
gwascentral	rs121908008
openSNP	rs121908008
23andMe	rs121908008
SNPshot	rs121908008
SNPdbe	rs121908008
MSV3d	rs121908008
GWAS Ctlg	rs121908008

Max Magnitude

5

See: OMIM 606887.0002

OMIM	606887
Desc
Variant	0002
Related	also

ClinVar
Risk	Rs121908008(A;A)
Alt	Rs121908008(A;A)
Reference	Rs121908008(C;C)
Significance	Pathogenic
Disease	Sulfite oxidase deficiency
Variation	info
Gene	SUOX
CLNDBN	Sulfite oxidase deficiency, isolated
Reversed	0
HGVS	NC_000012.11:g.56397967C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004025.3,