rs786204749

Orientation

minus

Stabilized

minus

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

Make rs786204749(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52058377

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs786204749
dbSNP (classic)	rs786204749
ClinGen	rs786204749
ebi	rs786204749
HLI	rs786204749
Exac	rs786204749
Gnomad	rs786204749
Varsome	rs786204749
LitVar	rs786204749
Map	rs786204749
PheGenI	rs786204749
Biobank	rs786204749
1000 genomes	rs786204749
hgdp	rs786204749
ensembl	rs786204749
geneview	rs786204749
scholar	rs786204749
google	rs786204749
pharmgkb	rs786204749
gwascentral	rs786204749
openSNP	rs786204749
23andMe	rs786204749
SNPshot	rs786204749
SNPdbe	rs786204749
MSV3d	rs786204749
GWAS Ctlg	rs786204749

Max Magnitude

3

ClinVar
Risk	rs786204749(A;A)
Alt	rs786204749(A;A)
Reference	Rs786204749(C;C)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51923175G>T
CLNSRC
CLNACC	RCV000169599.1,