rs28936677

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

1

Position

161166882

Gene

PPOX

is a	snp
is	mentioned by
dbSNP	rs28936677
dbSNP (classic)	rs28936677
ClinGen	rs28936677
ebi	rs28936677
HLI	rs28936677
Exac	rs28936677
Gnomad	rs28936677
Varsome	rs28936677
LitVar	rs28936677
Map	rs28936677
PheGenI	rs28936677
Biobank	rs28936677
1000 genomes	rs28936677
hgdp	rs28936677
ensembl	rs28936677
geneview	rs28936677
scholar	rs28936677
google	rs28936677
pharmgkb	rs28936677
gwascentral	rs28936677
openSNP	rs28936677
23andMe	rs28936677
SNPshot	rs28936677
SNPdbe	rs28936677
MSV3d	rs28936677
GWAS Ctlg	rs28936677

Max Magnitude

3.5

OMIM	600923
Desc	VARIEGATE PORPHYRIA, HOMOZYGOUS
Variant	0012
Related	also

ClinVar
Risk	Rs28936677(C;C)
Alt	Rs28936677(C;C)
Reference	Rs28936677(T;T)
Significance	Pathogenic
Disease	Variegate porphyria Variegate porphyria
Variation	info
Gene	PPOX
CLNDBN	Variegate porphyria, homozygous Variegate porphyria
Reversed	0
HGVS	NC_000001.10:g.161136672T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009240.4, RCV000033939.2,