rs1057516751

Orientation

minus

Stabilized

minus

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

Make rs1057516751(G;T)

Make rs1057516751(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51867900

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516751
dbSNP (classic)	rs1057516751
ClinGen	rs1057516751
ebi	rs1057516751
HLI	rs1057516751
Exac	rs1057516751
Gnomad	rs1057516751
Varsome	rs1057516751
LitVar	rs1057516751
Map	rs1057516751
PheGenI	rs1057516751
Biobank	rs1057516751
1000 genomes	rs1057516751
hgdp	rs1057516751
ensembl	rs1057516751
geneview	rs1057516751
scholar	rs1057516751
google	rs1057516751
pharmgkb	rs1057516751
gwascentral	rs1057516751
openSNP	rs1057516751
23andMe	rs1057516751
SNPshot	rs1057516751
SNPdbe	rs1057516751
MSV3d	rs1057516751
GWAS Ctlg	rs1057516751

Max Magnitude

0

ClinVar
Risk	rs1057516751(T;T)
Alt	rs1057516751(T;T)
Reference	Rs1057516751(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.51732698C>A
CLNSRC
CLNACC	RCV000412217.1,