rs398124481

Orientation

minus

Stabilized

minus

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

Make rs398124481(-;-)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52043128

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124481
dbSNP (classic)	rs398124481
ClinGen	rs398124481
ebi	rs398124481
HLI	rs398124481
Exac	rs398124481
Gnomad	rs398124481
Varsome	rs398124481
LitVar	rs398124481
Map	rs398124481
PheGenI	rs398124481
Biobank	rs398124481
1000 genomes	rs398124481
hgdp	rs398124481
ensembl	rs398124481
geneview	rs398124481
scholar	rs398124481
google	rs398124481
pharmgkb	rs398124481
gwascentral	rs398124481
openSNP	rs398124481
23andMe	rs398124481
SNPshot	rs398124481
SNPdbe	rs398124481
MSV3d	rs398124481
GWAS Ctlg	rs398124481

Max Magnitude

3

ClinVar
Risk	rs398124481(-;-)
Alt	rs398124481(-;-)
Reference	Rs398124481(GA;GA)
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.51907926_51907927delTC
CLNSRC	ClinVar
CLNACC	RCV000082542.3, RCV000176775.1,