rs398124483

Orientation

minus

Stabilized

minus

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

Make rs398124483(-;-)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52079937

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124483
dbSNP (classic)	rs398124483
ClinGen	rs398124483
ebi	rs398124483
HLI	rs398124483
Exac	rs398124483
Gnomad	rs398124483
Varsome	rs398124483
LitVar	rs398124483
Map	rs398124483
PheGenI	rs398124483
Biobank	rs398124483
1000 genomes	rs398124483
hgdp	rs398124483
ensembl	rs398124483
geneview	rs398124483
scholar	rs398124483
google	rs398124483
pharmgkb	rs398124483
gwascentral	rs398124483
openSNP	rs398124483
23andMe	rs398124483
SNPshot	rs398124483
SNPdbe	rs398124483
MSV3d	rs398124483
GWAS Ctlg	rs398124483

Max Magnitude

3

ClinVar
Risk	rs398124483(-;-)
Alt	rs398124483(-;-)
Reference	Rs398124483(G;G)
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.51944735delC
CLNSRC	HGMD
CLNACC	RCV000082547.3, RCV000179010.1,