rs869320669

Orientation

minus

Stabilized

minus

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

Make rs869320669(A;A)

Make rs869320669(A;C)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

125823225

Gene	BCCIP, UROS

is a	snp
is	mentioned by
dbSNP	rs869320669
dbSNP (classic)	rs869320669
ClinGen	rs869320669
ebi	rs869320669
HLI	rs869320669
Exac	rs869320669
Gnomad	rs869320669
Varsome	rs869320669
LitVar	rs869320669
Map	rs869320669
PheGenI	rs869320669
Biobank	rs869320669
1000 genomes	rs869320669
hgdp	rs869320669
ensembl	rs869320669
geneview	rs869320669
scholar	rs869320669
google	rs869320669
pharmgkb	rs869320669
gwascentral	rs869320669
openSNP	rs869320669
23andMe	rs869320669
SNPshot	rs869320669
SNPdbe	rs869320669
MSV3d	rs869320669
GWAS Ctlg	rs869320669

Max Magnitude

0

ClinVar
Risk	rs869320669(A;A)
Alt	rs869320669(A;A)
Reference	Rs869320669(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	BCCIP UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127511794G>T
CLNSRC
CLNACC	RCV000210863.1,