rs28931603

Orientation

minus

Stabilized

minus

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

Make rs28931603(C;T)

Make rs28931603(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

98580709

Gene

CPOX

is a	snp
is	mentioned by
dbSNP	rs28931603
dbSNP (classic)	rs28931603
ClinGen	rs28931603
ebi	rs28931603
HLI	rs28931603
Exac	rs28931603
Gnomad	rs28931603
Varsome	rs28931603
LitVar	rs28931603
Map	rs28931603
PheGenI	rs28931603
Biobank	rs28931603
1000 genomes	rs28931603
hgdp	rs28931603
ensembl	rs28931603
geneview	rs28931603
scholar	rs28931603
google	rs28931603
pharmgkb	rs28931603
gwascentral	rs28931603
openSNP	rs28931603
23andMe	rs28931603
SNPshot	rs28931603
SNPdbe	rs28931603
MSV3d	rs28931603
GWAS Ctlg	rs28931603

Max Magnitude

0

OMIM	121300
Desc	COPROPORPHYRIA
Variant	0009
Related	also

OMIM	612732
Desc
Variant	0009
Related	also

ClinVar
Risk	rs28931603(T;T)
Alt	rs28931603(T;T)
Reference	Rs28931603(C;C)
Significance	Pathogenic
Disease	Coproporphyria Hereditary coproporphyria
Variation	info
Gene	CPOX
CLNDBN	Coproporphyria Hereditary coproporphyria
Reversed	1
HGVS	NC_000003.11:g.98299553G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000488.2, RCV000415159.1,