rs1057516467

Orientation

minus

Stabilized

minus

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

Make rs1057516467(A;A)

Make rs1057516467(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

120670530

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs1057516467
dbSNP (classic)	rs1057516467
ClinGen	rs1057516467
ebi	rs1057516467
HLI	rs1057516467
Exac	rs1057516467
Gnomad	rs1057516467
Varsome	rs1057516467
LitVar	rs1057516467
Map	rs1057516467
PheGenI	rs1057516467
Biobank	rs1057516467
1000 genomes	rs1057516467
hgdp	rs1057516467
ensembl	rs1057516467
geneview	rs1057516467
scholar	rs1057516467
google	rs1057516467
pharmgkb	rs1057516467
gwascentral	rs1057516467
openSNP	rs1057516467
23andMe	rs1057516467
SNPshot	rs1057516467
SNPdbe	rs1057516467
MSV3d	rs1057516467
GWAS Ctlg	rs1057516467

Max Magnitude

0

ClinVar
Risk	rs1057516467(A;A)
Alt	rs1057516467(A;A)
Reference	Rs1057516467(G;G)
Significance	Probable-Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120389377C>T
CLNSRC
CLNACC	RCV000409762.1,