rs1057516441

Orientation

minus

Stabilized

minus

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

Make rs1057516441(C;T)

Make rs1057516441(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51903683

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516441
dbSNP (classic)	rs1057516441
ClinGen	rs1057516441
ebi	rs1057516441
HLI	rs1057516441
Exac	rs1057516441
Gnomad	rs1057516441
Varsome	rs1057516441
LitVar	rs1057516441
Map	rs1057516441
PheGenI	rs1057516441
Biobank	rs1057516441
1000 genomes	rs1057516441
hgdp	rs1057516441
ensembl	rs1057516441
geneview	rs1057516441
scholar	rs1057516441
google	rs1057516441
pharmgkb	rs1057516441
gwascentral	rs1057516441
openSNP	rs1057516441
23andMe	rs1057516441
SNPshot	rs1057516441
SNPdbe	rs1057516441
MSV3d	rs1057516441
GWAS Ctlg	rs1057516441

Max Magnitude

0

ClinVar
Risk	rs1057516441(T;T)
Alt	rs1057516441(T;T)
Reference	Rs1057516441(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.51768481G>A
CLNSRC
CLNACC	RCV000409558.1,