rs4385801

Orientation

plus

Stabilized

plus

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

Make rs4385801(G;T)

Make rs4385801(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

10

Position

125823221

Gene	BCCIP, UROS

is a	snp
is	mentioned by
dbSNP	rs4385801
dbSNP (classic)	rs4385801
ClinGen	rs4385801
ebi	rs4385801
HLI	rs4385801
Exac	rs4385801
Gnomad	rs4385801
Varsome	rs4385801
LitVar	rs4385801
Map	rs4385801
PheGenI	rs4385801
Biobank	rs4385801
1000 genomes	rs4385801
hgdp	rs4385801
ensembl	rs4385801
geneview	rs4385801
scholar	rs4385801
google	rs4385801
pharmgkb	rs4385801
gwascentral	rs4385801
openSNP	rs4385801
23andMe	rs4385801
SNPshot	rs4385801
SNPdbe	rs4385801
MSV3d	rs4385801
GWAS Ctlg	rs4385801

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs4385801(T;T)
Alt	rs4385801(T;T)
Reference	Rs4385801(G;G)
Significance	Other
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	BCCIP UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	0
HGVS	NC_000010.10:g.127511790G>T
CLNSRC
CLNACC	RCV000210862.2,