rs1057516490

Orientation

minus

Stabilized

minus

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

Make rs1057516490(C;T)

Make rs1057516490(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51847832

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516490
dbSNP (classic)	rs1057516490
ClinGen	rs1057516490
ebi	rs1057516490
HLI	rs1057516490
Exac	rs1057516490
Gnomad	rs1057516490
Varsome	rs1057516490
LitVar	rs1057516490
Map	rs1057516490
PheGenI	rs1057516490
Biobank	rs1057516490
1000 genomes	rs1057516490
hgdp	rs1057516490
ensembl	rs1057516490
geneview	rs1057516490
scholar	rs1057516490
google	rs1057516490
pharmgkb	rs1057516490
gwascentral	rs1057516490
openSNP	rs1057516490
23andMe	rs1057516490
SNPshot	rs1057516490
SNPdbe	rs1057516490
MSV3d	rs1057516490
GWAS Ctlg	rs1057516490

Max Magnitude

0

ClinVar
Risk	rs1057516490(T;T)
Alt	rs1057516490(T;T)
Reference	Rs1057516490(C;C)
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.51712630G>A
CLNSRC
CLNACC	RCV000411627.1,