rs397515347

Orientation

minus

Stabilized

minus

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

Make rs397515347(A;A)

Reference

GRCh38 38.1/141

Chromosome

3

Position

120675864

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs397515347
dbSNP (classic)	rs397515347
ClinGen	rs397515347
ebi	rs397515347
HLI	rs397515347
Exac	rs397515347
Gnomad	rs397515347
Varsome	rs397515347
LitVar	rs397515347
Map	rs397515347
PheGenI	rs397515347
Biobank	rs397515347
1000 genomes	rs397515347
hgdp	rs397515347
ensembl	rs397515347
geneview	rs397515347
scholar	rs397515347
google	rs397515347
pharmgkb	rs397515347
gwascentral	rs397515347
openSNP	rs397515347
23andMe	rs397515347
SNPshot	rs397515347
SNPdbe	rs397515347
MSV3d	rs397515347
GWAS Ctlg	rs397515347

Max Magnitude

3

ClinVar
Risk	rs397515347(A;A)
Alt	rs397515347(A;A)
Reference	Rs397515347(G;G)
Significance	Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120394711C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003320.4,