rs727504089

Orientation

minus

Stabilized

minus

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

Make rs727504089(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52043721

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs727504089
dbSNP (classic)	rs727504089
ClinGen	rs727504089
ebi	rs727504089
HLI	rs727504089
Exac	rs727504089
Gnomad	rs727504089
Varsome	rs727504089
LitVar	rs727504089
Map	rs727504089
PheGenI	rs727504089
Biobank	rs727504089
1000 genomes	rs727504089
hgdp	rs727504089
ensembl	rs727504089
geneview	rs727504089
scholar	rs727504089
google	rs727504089
pharmgkb	rs727504089
gwascentral	rs727504089
openSNP	rs727504089
23andMe	rs727504089
SNPshot	rs727504089
SNPdbe	rs727504089
MSV3d	rs727504089
GWAS Ctlg	rs727504089

Max Magnitude

3

ClinVar
Risk	rs727504089(T;T)
Alt	rs727504089(T;T)
Reference	Rs727504089(C;C)
Significance	Pathogenic
Disease	not provided Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	not provided Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51908519G>A
CLNSRC
CLNACC	RCV000153720.2, RCV000176696.1,