rs398124480

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 rs398124480(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52046144

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124480
dbSNP (classic)	rs398124480
ClinGen	rs398124480
ebi	rs398124480
HLI	rs398124480
Exac	rs398124480
Gnomad	rs398124480
Varsome	rs398124480
LitVar	rs398124480
Map	rs398124480
PheGenI	rs398124480
Biobank	rs398124480
1000 genomes	rs398124480
hgdp	rs398124480
ensembl	rs398124480
geneview	rs398124480
scholar	rs398124480
google	rs398124480
pharmgkb	rs398124480
gwascentral	rs398124480
openSNP	rs398124480
23andMe	rs398124480
SNPshot	rs398124480
SNPdbe	rs398124480
MSV3d	rs398124480
GWAS Ctlg	rs398124480

Max Magnitude

3

ClinVar
Risk	rs398124480(T;T)
Alt	rs398124480(T;T)
Reference	Rs398124480(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.51910942G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000082540.3, RCV000176504.2,