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rs4385801

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs4385801(G;T)
Make rs4385801(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position125823221
GeneBCCIP, UROS
is asnp
is mentioned by
dbSNPrs4385801
ebirs4385801
HLIrs4385801
Exacrs4385801
Varsomers4385801
Maprs4385801
PheGenIrs4385801
hapmaprs4385801
1000 genomesrs4385801
hgdprs4385801
ensemblrs4385801
gopubmedrs4385801
geneviewrs4385801
scholarrs4385801
googlers4385801
pharmgkbrs4385801
gwascentralrs4385801
openSNPrs4385801
23andMers4385801
23andMe allrs4385801
SNP Nexus

SNPshotrs4385801
SNPdbers4385801
MSV3drs4385801
GWAS Ctlgrs4385801
Max Magnitude0
? (G;G) (G;T) (T;T) 28
ClinVar
Risk rs4385801(T;T)
Alt rs4385801(T;T)
Reference Rs4385801(G;G)
Significance Pathogenic
Disease Congenital erythropoietic porphyria
Variation info
Gene BCCIP UROS
CLNDBN Congenital erythropoietic porphyria
Reversed 0
HGVS NC_000010.10:g.127511790G>T
CLNSRC
CLNACC RCV000210862.1,