rs397515518

Orientation

minus

Stabilized

minus

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

Make rs397515518(A;A)

Make rs397515518(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

120652591

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs397515518
dbSNP (classic)	rs397515518
ClinGen	rs397515518
ebi	rs397515518
HLI	rs397515518
Exac	rs397515518
Gnomad	rs397515518
Varsome	rs397515518
LitVar	rs397515518
Map	rs397515518
PheGenI	rs397515518
Biobank	rs397515518
1000 genomes	rs397515518
hgdp	rs397515518
ensembl	rs397515518
geneview	rs397515518
scholar	rs397515518
google	rs397515518
pharmgkb	rs397515518
gwascentral	rs397515518
openSNP	rs397515518
23andMe	rs397515518
SNPshot	rs397515518
SNPdbe	rs397515518
MSV3d	rs397515518
GWAS Ctlg	rs397515518

Max Magnitude

0

ClinVar
Risk	rs397515518(A;A) rs397515518(T;T)
Alt	rs397515518(A;A) rs397515518(T;T)
Reference	Rs397515518(G;G)
Significance	Other
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120371438C>A; NC_000003.11:g.120371438C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000169542.1, RCV000055781.1,