rs1057516307

Orientation

minus

Stabilized

minus

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

Make rs1057516307(C;C)

Make rs1057516307(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

120646265

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs1057516307
dbSNP (classic)	rs1057516307
ClinGen	rs1057516307
ebi	rs1057516307
HLI	rs1057516307
Exac	rs1057516307
Gnomad	rs1057516307
Varsome	rs1057516307
LitVar	rs1057516307
Map	rs1057516307
PheGenI	rs1057516307
Biobank	rs1057516307
1000 genomes	rs1057516307
hgdp	rs1057516307
ensembl	rs1057516307
geneview	rs1057516307
scholar	rs1057516307
google	rs1057516307
pharmgkb	rs1057516307
gwascentral	rs1057516307
openSNP	rs1057516307
23andMe	rs1057516307
SNPshot	rs1057516307
SNPdbe	rs1057516307
MSV3d	rs1057516307
GWAS Ctlg	rs1057516307

Max Magnitude

0

ClinVar
Risk	rs1057516307(C;C)
Alt	rs1057516307(C;C)
Reference	Rs1057516307(T;T)
Significance	Probable-Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120365112A>G
CLNSRC
CLNACC	RCV000411569.1,