rs369517993

Orientation

plus

Stabilized

plus

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

Make rs369517993(G;T)

Make rs369517993(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

120674937

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs369517993
dbSNP (classic)	rs369517993
ClinGen	rs369517993
ebi	rs369517993
HLI	rs369517993
Exac	rs369517993
Gnomad	rs369517993
Varsome	rs369517993
LitVar	rs369517993
Map	rs369517993
PheGenI	rs369517993
Biobank	rs369517993
1000 genomes	rs369517993
hgdp	rs369517993
ensembl	rs369517993
geneview	rs369517993
scholar	rs369517993
google	rs369517993
pharmgkb	rs369517993
gwascentral	rs369517993
openSNP	rs369517993
23andMe	rs369517993
SNPshot	rs369517993
SNPdbe	rs369517993
MSV3d	rs369517993
GWAS Ctlg	rs369517993

Max Magnitude

0

ClinVar
Risk	rs369517993(A;A) rs369517993(T;T)
Alt	rs369517993(A;A) rs369517993(T;T)
Reference	Rs369517993(G;G)
Significance	Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	0
HGVS	NC_000003.11:g.120393784G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055778.1,