rs1057516596

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs1057516596(-;-)

Make rs1057516596(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51883173

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516596
dbSNP (classic)	rs1057516596
ClinGen	rs1057516596
ebi	rs1057516596
HLI	rs1057516596
Exac	rs1057516596
Gnomad	rs1057516596
Varsome	rs1057516596
LitVar	rs1057516596
Map	rs1057516596
PheGenI	rs1057516596
Biobank	rs1057516596
1000 genomes	rs1057516596
hgdp	rs1057516596
ensembl	rs1057516596
geneview	rs1057516596
scholar	rs1057516596
google	rs1057516596
pharmgkb	rs1057516596
gwascentral	rs1057516596
openSNP	rs1057516596
23andMe	rs1057516596
SNPshot	rs1057516596
SNPdbe	rs1057516596
MSV3d	rs1057516596
GWAS Ctlg	rs1057516596

Max Magnitude

0

ClinVar
Risk	rs1057516596(-;-)
Alt	rs1057516596(-;-)
Reference	Rs1057516596(G;G)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51747971delC
CLNSRC
CLNACC	RCV000412300.1,