rs786204707

Orientation

minus

Stabilized

minus

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

Make rs786204707(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52043636

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs786204707
dbSNP (classic)	rs786204707
ClinGen	rs786204707
ebi	rs786204707
HLI	rs786204707
Exac	rs786204707
Gnomad	rs786204707
Varsome	rs786204707
LitVar	rs786204707
Map	rs786204707
PheGenI	rs786204707
Biobank	rs786204707
1000 genomes	rs786204707
hgdp	rs786204707
ensembl	rs786204707
geneview	rs786204707
scholar	rs786204707
google	rs786204707
pharmgkb	rs786204707
gwascentral	rs786204707
openSNP	rs786204707
23andMe	rs786204707
SNPshot	rs786204707
SNPdbe	rs786204707
MSV3d	rs786204707
GWAS Ctlg	rs786204707

Max Magnitude

3

ClinVar
Risk	rs786204707(A;A)
Alt	rs786204707(A;A)
Reference	Rs786204707(G;G)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease Polycystic kidney dysplasia Renal cyst Ventricular hypertrophy
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease Polycystic kidney dysplasia Renal cyst Ventricular hypertrophy
Reversed	1
HGVS	NC_000006.11:g.51908434C>T
CLNSRC
CLNACC	RCV000169522.1, RCV000415273.1,