rs1057516382

Orientation

minus

Stabilized

minus

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

Make rs1057516382(-;-)

Make rs1057516382(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

52025253

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516382
dbSNP (classic)	rs1057516382
ClinGen	rs1057516382
ebi	rs1057516382
HLI	rs1057516382
Exac	rs1057516382
Gnomad	rs1057516382
Varsome	rs1057516382
LitVar	rs1057516382
Map	rs1057516382
PheGenI	rs1057516382
Biobank	rs1057516382
1000 genomes	rs1057516382
hgdp	rs1057516382
ensembl	rs1057516382
geneview	rs1057516382
scholar	rs1057516382
google	rs1057516382
pharmgkb	rs1057516382
gwascentral	rs1057516382
openSNP	rs1057516382
23andMe	rs1057516382
SNPshot	rs1057516382
SNPdbe	rs1057516382
MSV3d	rs1057516382
GWAS Ctlg	rs1057516382

Max Magnitude

0

ClinVar
Risk	rs1057516382(-;-)
Alt	rs1057516382(-;-)
Reference	Rs1057516382(T;T)
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.51890051delA
CLNSRC
CLNACC	RCV000412113.1,