rs1057516976

Orientation

minus

Stabilized

minus

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

Make rs1057516976(-;-)

Make rs1057516976(-;AA)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

120650831

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs1057516976
dbSNP (classic)	rs1057516976
ClinGen	rs1057516976
ebi	rs1057516976
HLI	rs1057516976
Exac	rs1057516976
Gnomad	rs1057516976
Varsome	rs1057516976
LitVar	rs1057516976
Map	rs1057516976
PheGenI	rs1057516976
Biobank	rs1057516976
1000 genomes	rs1057516976
hgdp	rs1057516976
ensembl	rs1057516976
geneview	rs1057516976
scholar	rs1057516976
google	rs1057516976
pharmgkb	rs1057516976
gwascentral	rs1057516976
openSNP	rs1057516976
23andMe	rs1057516976
SNPshot	rs1057516976
SNPdbe	rs1057516976
MSV3d	rs1057516976
GWAS Ctlg	rs1057516976

Max Magnitude

0

ClinVar
Risk	rs1057516976(-;-)
Alt	rs1057516976(-;-)
Reference	Rs1057516976(AA;AA)
Significance	Probable-Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120369678_120369679delTT
CLNSRC
CLNACC	RCV000411862.1,