rs797044713

Orientation

minus

Stabilized

minus

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

Make rs797044713(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52028187

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs797044713
dbSNP (classic)	rs797044713
ClinGen	rs797044713
ebi	rs797044713
HLI	rs797044713
Exac	rs797044713
Gnomad	rs797044713
Varsome	rs797044713
LitVar	rs797044713
Map	rs797044713
PheGenI	rs797044713
Biobank	rs797044713
1000 genomes	rs797044713
hgdp	rs797044713
ensembl	rs797044713
geneview	rs797044713
scholar	rs797044713
google	rs797044713
pharmgkb	rs797044713
gwascentral	rs797044713
openSNP	rs797044713
23andMe	rs797044713
SNPshot	rs797044713
SNPdbe	rs797044713
MSV3d	rs797044713
GWAS Ctlg	rs797044713

Max Magnitude

3

ClinVar
Risk	rs797044713(C;C)
Alt	rs797044713(C;C)
Reference	Rs797044713(-;-)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51892986dupG
CLNSRC
CLNACC	RCV000177479.1,