rs562853291

Orientation

plus

Stabilized

plus

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

Make rs562853291(C;T)

Make rs562853291(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

120644419

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs562853291
dbSNP (classic)	rs562853291
ClinGen	rs562853291
ebi	rs562853291
HLI	rs562853291
Exac	rs562853291
Gnomad	rs562853291
Varsome	rs562853291
LitVar	rs562853291
Map	rs562853291
PheGenI	rs562853291
Biobank	rs562853291
1000 genomes	rs562853291
hgdp	rs562853291
ensembl	rs562853291
geneview	rs562853291
scholar	rs562853291
google	rs562853291
pharmgkb	rs562853291
gwascentral	rs562853291
openSNP	rs562853291
23andMe	rs562853291
SNPshot	rs562853291
SNPdbe	rs562853291
MSV3d	rs562853291
GWAS Ctlg	rs562853291

Max Magnitude

0

ClinVar
Risk	rs562853291(G;G) rs562853291(T;T)
Alt	rs562853291(G;G) rs562853291(T;T)
Reference	Rs562853291(C;C)
Significance	Probable-Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	0
HGVS	NC_000003.11:g.120363266C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169601.1,