rs1057516911

Orientation

minus

Stabilized

minus

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

Make rs1057516911(-;-)

Make rs1057516911(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

120650862

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs1057516911
dbSNP (classic)	rs1057516911
ClinGen	rs1057516911
ebi	rs1057516911
HLI	rs1057516911
Exac	rs1057516911
Gnomad	rs1057516911
Varsome	rs1057516911
LitVar	rs1057516911
Map	rs1057516911
PheGenI	rs1057516911
Biobank	rs1057516911
1000 genomes	rs1057516911
hgdp	rs1057516911
ensembl	rs1057516911
geneview	rs1057516911
scholar	rs1057516911
google	rs1057516911
pharmgkb	rs1057516911
gwascentral	rs1057516911
openSNP	rs1057516911
23andMe	rs1057516911
23andMe all	rs1057516911
SNPshot	rs1057516911
SNPdbe	rs1057516911
MSV3d	rs1057516911
GWAS Ctlg	rs1057516911

Max Magnitude

0

ClinVar
Risk	rs1057516911(-;-)
Alt	rs1057516911(-;-)
Reference	Rs1057516911(C;C)
Significance	Probable-Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120369709delG
CLNSRC
CLNACC	RCV000411315.1,