rs1057516445

Orientation

minus

Stabilized

minus

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

Make rs1057516445(A;A)

Make rs1057516445(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51747933

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516445
dbSNP (classic)	rs1057516445
ClinGen	rs1057516445
ebi	rs1057516445
HLI	rs1057516445
Exac	rs1057516445
Gnomad	rs1057516445
Varsome	rs1057516445
LitVar	rs1057516445
Map	rs1057516445
PheGenI	rs1057516445
Biobank	rs1057516445
1000 genomes	rs1057516445
hgdp	rs1057516445
ensembl	rs1057516445
geneview	rs1057516445
scholar	rs1057516445
google	rs1057516445
pharmgkb	rs1057516445
gwascentral	rs1057516445
openSNP	rs1057516445
23andMe	rs1057516445
SNPshot	rs1057516445
SNPdbe	rs1057516445
MSV3d	rs1057516445
GWAS Ctlg	rs1057516445

Max Magnitude

0

ClinVar
Risk	rs1057516445(A;A)
Alt	rs1057516445(A;A)
Reference	Rs1057516445(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.51612731G>T
CLNSRC
CLNACC	RCV000411250.1,