rs869320670

Orientation

minus

Stabilized

minus

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

Make rs869320670(C;C)

Make rs869320670(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

125823205

Gene	BCCIP, UROS

is a	snp
is	mentioned by
dbSNP	rs869320670
dbSNP (classic)	rs869320670
ClinGen	rs869320670
ebi	rs869320670
HLI	rs869320670
Exac	rs869320670
Gnomad	rs869320670
Varsome	rs869320670
LitVar	rs869320670
Map	rs869320670
PheGenI	rs869320670
Biobank	rs869320670
1000 genomes	rs869320670
hgdp	rs869320670
ensembl	rs869320670
geneview	rs869320670
scholar	rs869320670
google	rs869320670
pharmgkb	rs869320670
gwascentral	rs869320670
openSNP	rs869320670
23andMe	rs869320670
SNPshot	rs869320670
SNPdbe	rs869320670
MSV3d	rs869320670
GWAS Ctlg	rs869320670

Max Magnitude

0

ClinVar
Risk	rs869320670(C;C)
Alt	rs869320670(C;C)
Reference	Rs869320670(T;T)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	BCCIP UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127511774A>G
CLNSRC
CLNACC	RCV000210860.1,