rs121918060

Orientation

plus

Stabilized

plus

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

Make rs121918060(C;T)

Make rs121918060(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45013187

Gene	HECTD3, UROD

is a	snp
is	mentioned by
dbSNP	rs121918060
dbSNP (classic)	rs121918060
ClinGen	rs121918060
ebi	rs121918060
HLI	rs121918060
Exac	rs121918060
Gnomad	rs121918060
Varsome	rs121918060
LitVar	rs121918060
Map	rs121918060
PheGenI	rs121918060
Biobank	rs121918060
1000 genomes	rs121918060
hgdp	rs121918060
ensembl	rs121918060
geneview	rs121918060
scholar	rs121918060
google	rs121918060
pharmgkb	rs121918060
gwascentral	rs121918060
openSNP	rs121918060
23andMe	rs121918060
SNPshot	rs121918060
SNPdbe	rs121918060
MSV3d	rs121918060
GWAS Ctlg	rs121918060

Max Magnitude

0

OMIM	613521
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121918060(T;T)
Alt	rs121918060(T;T)
Reference	Rs121918060(C;C)
Significance	Pathogenic
Disease	Hepatoerythropoietic porphyria
Variation	info
Gene	HECTD3 UROD
CLNDBN	Hepatoerythropoietic porphyria
Reversed	0
HGVS	NC_000001.10:g.45478859C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000088.3,