rs200788729

Orientation

plus

Stabilized

plus

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

Make rs200788729(C;T)

Make rs200788729(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

10

Position

12108004

Gene

DHTKD1

is a	snp
is	mentioned by
dbSNP	rs200788729
dbSNP (classic)	rs200788729
ClinGen	rs200788729
ebi	rs200788729
HLI	rs200788729
Exac	rs200788729
Gnomad	rs200788729
Varsome	rs200788729
LitVar	rs200788729
Map	rs200788729
PheGenI	rs200788729
Biobank	rs200788729
1000 genomes	rs200788729
hgdp	rs200788729
ensembl	rs200788729
geneview	rs200788729
scholar	rs200788729
google	rs200788729
pharmgkb	rs200788729
gwascentral	rs200788729
openSNP	rs200788729
23andMe	rs200788729
SNPshot	rs200788729
SNPdbe	rs200788729
MSV3d	rs200788729
GWAS Ctlg	rs200788729

Max Magnitude

0

ClinVar
Risk	rs200788729(T;T)
Alt	rs200788729(T;T)
Reference	Rs200788729(C;C)
Significance	Probable-Pathogenic
Disease	2-aminoadipic 2-oxoadipic aciduria
Variation	info
Gene	DHTKD1
CLNDBN	2-aminoadipic 2-oxoadipic aciduria
Reversed	0
HGVS	NC_000010.10:g.12150003C>T
CLNSRC
CLNACC	RCV000199635.1,