rs121918323

Orientation

plus

Stabilized

plus

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

Make rs121918323(C;C)

Make rs121918323(C;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

161169070

Gene

PPOX

is a	snp
is	mentioned by
dbSNP	rs121918323
dbSNP (classic)	rs121918323
ClinGen	rs121918323
ebi	rs121918323
HLI	rs121918323
Exac	rs121918323
Gnomad	rs121918323
Varsome	rs121918323
LitVar	rs121918323
Map	rs121918323
PheGenI	rs121918323
Biobank	rs121918323
1000 genomes	rs121918323
hgdp	rs121918323
ensembl	rs121918323
geneview	rs121918323
scholar	rs121918323
google	rs121918323
pharmgkb	rs121918323
gwascentral	rs121918323
openSNP	rs121918323
23andMe	rs121918323
SNPshot	rs121918323
SNPdbe	rs121918323
MSV3d	rs121918323
GWAS Ctlg	rs121918323

Max Magnitude

0

OMIM	600923
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918323(C;C)
Alt	rs121918323(C;C)
Reference	Rs121918323(G;G)
Significance	Pathogenic
Disease	Variegate porphyria
Variation	info
Gene	PPOX
CLNDBN	Variegate porphyria
Reversed	0
HGVS	NC_000001.10:g.161138860G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009230.4,