rs120074172

Orientation

minus

Stabilized

minus

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

Make rs120074172(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

120633223

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs120074172
dbSNP (classic)	rs120074172
ClinGen	rs120074172
ebi	rs120074172
HLI	rs120074172
Exac	rs120074172
Gnomad	rs120074172
Varsome	rs120074172
LitVar	rs120074172
Map	rs120074172
PheGenI	rs120074172
Biobank	rs120074172
1000 genomes	rs120074172
hgdp	rs120074172
ensembl	rs120074172
geneview	rs120074172
scholar	rs120074172
google	rs120074172
pharmgkb	rs120074172
gwascentral	rs120074172
openSNP	rs120074172
23andMe	rs120074172
SNPshot	rs120074172
SNPdbe	rs120074172
MSV3d	rs120074172
GWAS Ctlg	rs120074172

Max Magnitude

3

OMIM	607474
Desc
Variant	0008
Related	also

ClinVar
Risk	rs120074172(G;G)
Alt	rs120074172(G;G)
Reference	Rs120074172(A;A)
Significance	Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120352070T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003322.4,