rs149165166

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	3	Carrier of a alkaptonuria mutation

Make rs149165166(A;G)

Make rs149165166(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

120650848

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs149165166
dbSNP (classic)	rs149165166
ClinGen	rs149165166
ebi	rs149165166
HLI	rs149165166
Exac	rs149165166
Gnomad	rs149165166
Varsome	rs149165166
LitVar	rs149165166
Map	rs149165166
PheGenI	rs149165166
Biobank	rs149165166
1000 genomes	rs149165166
hgdp	rs149165166
ensembl	rs149165166
geneview	rs149165166
scholar	rs149165166
google	rs149165166
pharmgkb	rs149165166
gwascentral	rs149165166
openSNP	rs149165166
23andMe	rs149165166
SNPshot	rs149165166
SNPdbe	rs149165166
MSV3d	rs149165166
GWAS Ctlg	rs149165166

GMAF

0.0004591

Max Magnitude

3

ClinVar
Risk	rs149165166(C;C) rs149165166(G;G)
Alt	rs149165166(C;C) rs149165166(G;G)
Reference	Rs149165166(A;A)
Significance	Pathogenic
Disease	Alkaptonuria not specified
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria not specified
Reversed	0
HGVS	NC_000003.11:g.120369695A>C; NC_000003.11:g.120369695A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055782.2, RCV000244506.1,