rs12735723

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Variegate porphyria carrier
(G;G)	3.5	Variegate porphyria

Reference

GRCh38 38.1/141

Chromosome

1

Position

161169143

Gene

PPOX

is a	snp
is	mentioned by
dbSNP	rs12735723
dbSNP (classic)	rs12735723
ClinGen	rs12735723
ebi	rs12735723
HLI	rs12735723
Exac	rs12735723
Gnomad	rs12735723
Varsome	rs12735723
LitVar	rs12735723
Map	rs12735723
PheGenI	rs12735723
Biobank	rs12735723
1000 genomes	rs12735723
hgdp	rs12735723
ensembl	rs12735723
geneview	rs12735723
scholar	rs12735723
google	rs12735723
pharmgkb	rs12735723
gwascentral	rs12735723
openSNP	rs12735723
23andMe	rs12735723
SNPshot	rs12735723
SNPdbe	rs12735723
MSV3d	rs12735723
GWAS Ctlg	rs12735723

GMAF

0.004132

Max Magnitude

3.5

?	(C;C) (C;G) (G;G)	28

OMIM	600923
Desc	VARIEGATE PORPHYRIA, HOMOZYGOUS
Variant	0013
Related	also

ClinVar
Risk	Rs12735723(G;G) rs12735723(T;T)
Alt	Rs12735723(G;G) rs12735723(T;T)
Reference	Rs12735723(C;C)
Significance	Pathogenic
Disease	Variegate porphyria
Variation	info
Gene	PPOX
CLNDBN	Variegate porphyria, homozygous
Reversed	0
HGVS	NC_000001.10:g.161138933C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009241.6,