rs1057516283

Orientation

minus

Stabilized

minus

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

Make rs1057516283(-;-)

Make rs1057516283(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

52033167

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516283
dbSNP (classic)	rs1057516283
ClinGen	rs1057516283
ebi	rs1057516283
HLI	rs1057516283
Exac	rs1057516283
Gnomad	rs1057516283
Varsome	rs1057516283
LitVar	rs1057516283
Map	rs1057516283
PheGenI	rs1057516283
Biobank	rs1057516283
1000 genomes	rs1057516283
hgdp	rs1057516283
ensembl	rs1057516283
geneview	rs1057516283
scholar	rs1057516283
google	rs1057516283
pharmgkb	rs1057516283
gwascentral	rs1057516283
openSNP	rs1057516283
23andMe	rs1057516283
SNPshot	rs1057516283
SNPdbe	rs1057516283
MSV3d	rs1057516283
GWAS Ctlg	rs1057516283

Max Magnitude

0

ClinVar
Risk	rs1057516283(-;-)
Alt	rs1057516283(-;-)
Reference	Rs1057516283(A;A)
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.51897965delT
CLNSRC
CLNACC	RCV000410533.1,