rs1057516201

Orientation

minus

Stabilized

minus

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

Make rs1057516201(C;C)

Make rs1057516201(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51748665

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516201
dbSNP (classic)	rs1057516201
ClinGen	rs1057516201
ebi	rs1057516201
HLI	rs1057516201
Exac	rs1057516201
Gnomad	rs1057516201
Varsome	rs1057516201
LitVar	rs1057516201
Map	rs1057516201
PheGenI	rs1057516201
Biobank	rs1057516201
1000 genomes	rs1057516201
hgdp	rs1057516201
ensembl	rs1057516201
geneview	rs1057516201
scholar	rs1057516201
google	rs1057516201
pharmgkb	rs1057516201
gwascentral	rs1057516201
openSNP	rs1057516201
23andMe	rs1057516201
SNPshot	rs1057516201
SNPdbe	rs1057516201
MSV3d	rs1057516201
GWAS Ctlg	rs1057516201

Max Magnitude

0

ClinVar
Risk	rs1057516201(C;C)
Alt	rs1057516201(C;C)
Reference	Rs1057516201(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.51613463C>G
CLNSRC
CLNACC	RCV000408884.1,