rs727504087

Orientation

minus

Stabilized

minus

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

Make rs727504087(-;-)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52025077

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs727504087
dbSNP (classic)	rs727504087
ClinGen	rs727504087
ebi	rs727504087
HLI	rs727504087
Exac	rs727504087
Gnomad	rs727504087
Varsome	rs727504087
LitVar	rs727504087
Map	rs727504087
PheGenI	rs727504087
Biobank	rs727504087
1000 genomes	rs727504087
hgdp	rs727504087
ensembl	rs727504087
geneview	rs727504087
scholar	rs727504087
google	rs727504087
pharmgkb	rs727504087
gwascentral	rs727504087
openSNP	rs727504087
23andMe	rs727504087
SNPshot	rs727504087
SNPdbe	rs727504087
MSV3d	rs727504087
GWAS Ctlg	rs727504087

Max Magnitude

3

ClinVar
Risk	rs727504087(-;-)
Alt	rs727504087(-;-)
Reference	Rs727504087(A;A)
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.51889875delT
CLNSRC
CLNACC	RCV000153716.2, RCV000177668.1,