rs797044607

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;G)	3	Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G)	0	common in clinvar

Make rs797044607(-;-)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52024787

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs797044607
dbSNP (classic)	rs797044607
ClinGen	rs797044607
ebi	rs797044607
HLI	rs797044607
Exac	rs797044607
Gnomad	rs797044607
Varsome	rs797044607
LitVar	rs797044607
Map	rs797044607
PheGenI	rs797044607
Biobank	rs797044607
1000 genomes	rs797044607
hgdp	rs797044607
ensembl	rs797044607
geneview	rs797044607
scholar	rs797044607
google	rs797044607
pharmgkb	rs797044607
gwascentral	rs797044607
openSNP	rs797044607
23andMe	rs797044607
SNPshot	rs797044607
SNPdbe	rs797044607
MSV3d	rs797044607
GWAS Ctlg	rs797044607

Max Magnitude

3

ClinVar
Risk	rs797044607(-;-)
Alt	rs797044607(-;-)
Reference	Rs797044607(G;G)
Significance	Probable-Pathogenic
Disease	Homocystinuria due to CBS deficiency
Variation	info
Gene	PKHD1
CLNDBN	Homocystinuria due to CBS deficiency
Reversed	1
HGVS	NC_000006.11:g.51889585delC
CLNSRC
CLNACC	RCV000192625.1,