rs1057516588

Orientation

minus

Stabilized

minus

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

Make rs1057516588(G;T)

Make rs1057516588(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51883092

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516588
dbSNP (classic)	rs1057516588
ClinGen	rs1057516588
ebi	rs1057516588
HLI	rs1057516588
Exac	rs1057516588
Gnomad	rs1057516588
Varsome	rs1057516588
LitVar	rs1057516588
Map	rs1057516588
PheGenI	rs1057516588
Biobank	rs1057516588
1000 genomes	rs1057516588
hgdp	rs1057516588
ensembl	rs1057516588
geneview	rs1057516588
scholar	rs1057516588
google	rs1057516588
pharmgkb	rs1057516588
gwascentral	rs1057516588
openSNP	rs1057516588
23andMe	rs1057516588
SNPshot	rs1057516588
SNPdbe	rs1057516588
MSV3d	rs1057516588
GWAS Ctlg	rs1057516588

Max Magnitude

0

ClinVar
Risk	rs1057516588(T;T)
Alt	rs1057516588(T;T)
Reference	Rs1057516588(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.51747890C>A
CLNSRC
CLNACC	RCV000411686.1,