rs398124501

Orientation

minus

Stabilized

minus

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

Make rs398124501(-;-)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52065001

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124501
dbSNP (classic)	rs398124501
ClinGen	rs398124501
ebi	rs398124501
HLI	rs398124501
Exac	rs398124501
Gnomad	rs398124501
Varsome	rs398124501
LitVar	rs398124501
Map	rs398124501
PheGenI	rs398124501
Biobank	rs398124501
1000 genomes	rs398124501
hgdp	rs398124501
ensembl	rs398124501
geneview	rs398124501
scholar	rs398124501
google	rs398124501
pharmgkb	rs398124501
gwascentral	rs398124501
openSNP	rs398124501
23andMe	rs398124501
SNPshot	rs398124501
SNPdbe	rs398124501
MSV3d	rs398124501
GWAS Ctlg	rs398124501

Max Magnitude

3

ClinVar
Risk	rs398124501(-;-)
Alt	rs398124501(-;-)
Reference	Rs398124501(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.51929799delG
CLNSRC	ClinVar
CLNACC	RCV000082592.3, RCV000174614.2,