rs1057516562

Orientation

minus

Stabilized

minus

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

Make rs1057516562(-;-)

Make rs1057516562(-;TGAGAGTGAATGG)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

52044952

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516562
dbSNP (classic)	rs1057516562
ClinGen	rs1057516562
ebi	rs1057516562
HLI	rs1057516562
Exac	rs1057516562
Gnomad	rs1057516562
Varsome	rs1057516562
LitVar	rs1057516562
Map	rs1057516562
PheGenI	rs1057516562
Biobank	rs1057516562
1000 genomes	rs1057516562
hgdp	rs1057516562
ensembl	rs1057516562
geneview	rs1057516562
scholar	rs1057516562
google	rs1057516562
pharmgkb	rs1057516562
gwascentral	rs1057516562
openSNP	rs1057516562
23andMe	rs1057516562
SNPshot	rs1057516562
SNPdbe	rs1057516562
MSV3d	rs1057516562
GWAS Ctlg	rs1057516562

Max Magnitude

0

ClinVar
Risk	rs1057516562(-;-)
Alt	rs1057516562(-;-)
Reference	Rs1057516562(TGAGAGTGAATGG;TGAGAGTGAATGG)
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.51909750_51909762delCCATTCACTCTCA
CLNSRC
CLNACC	RCV000410125.1,