rs1057516362

Orientation

minus

Stabilized

minus

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

Make rs1057516362(ATT;ATT)

Make rs1057516362(ATT;GG)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

120675847

Gene

HGD

is a	snp
is	mentioned by
dbSNP	rs1057516362
dbSNP (classic)	rs1057516362
ClinGen	rs1057516362
ebi	rs1057516362
HLI	rs1057516362
Exac	rs1057516362
Gnomad	rs1057516362
Varsome	rs1057516362
LitVar	rs1057516362
Map	rs1057516362
PheGenI	rs1057516362
Biobank	rs1057516362
1000 genomes	rs1057516362
hgdp	rs1057516362
ensembl	rs1057516362
geneview	rs1057516362
scholar	rs1057516362
google	rs1057516362
pharmgkb	rs1057516362
gwascentral	rs1057516362
openSNP	rs1057516362
23andMe	rs1057516362
SNPshot	rs1057516362
SNPdbe	rs1057516362
MSV3d	rs1057516362
GWAS Ctlg	rs1057516362

Max Magnitude

0

ClinVar
Risk	rs1057516362(ATT;ATT)
Alt	rs1057516362(ATT;ATT)
Reference	Rs1057516362(GG;GG)
Significance	Probable-Pathogenic
Disease	Alkaptonuria
Variation	info
Gene	HGD
CLNDBN	Alkaptonuria
Reversed	1
HGVS	NC_000003.11:g.120394694_120394695delCCinsAAT
CLNSRC
CLNACC	RCV000410442.1,