rs727504096

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 rs727504096(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52079920

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs727504096
dbSNP (classic)	rs727504096
ClinGen	rs727504096
ebi	rs727504096
HLI	rs727504096
Exac	rs727504096
Gnomad	rs727504096
Varsome	rs727504096
LitVar	rs727504096
Map	rs727504096
PheGenI	rs727504096
Biobank	rs727504096
1000 genomes	rs727504096
hgdp	rs727504096
ensembl	rs727504096
geneview	rs727504096
scholar	rs727504096
google	rs727504096
pharmgkb	rs727504096
gwascentral	rs727504096
openSNP	rs727504096
23andMe	rs727504096
SNPshot	rs727504096
SNPdbe	rs727504096
MSV3d	rs727504096
GWAS Ctlg	rs727504096

Max Magnitude

3

ClinVar
Risk	rs727504096(T;T)
Alt	rs727504096(T;T)
Reference	Rs727504096(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.51944718G>A
CLNSRC	HGMD
CLNACC	RCV000153728.2, RCV000179011.1,