rs1057517394

Orientation

minus

Stabilized

minus

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

Make rs1057517394(-;-)

Make rs1057517394(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

52043633

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057517394
dbSNP (classic)	rs1057517394
ClinGen	rs1057517394
ebi	rs1057517394
HLI	rs1057517394
Exac	rs1057517394
Gnomad	rs1057517394
Varsome	rs1057517394
LitVar	rs1057517394
Map	rs1057517394
PheGenI	rs1057517394
Biobank	rs1057517394
1000 genomes	rs1057517394
hgdp	rs1057517394
ensembl	rs1057517394
geneview	rs1057517394
scholar	rs1057517394
google	rs1057517394
pharmgkb	rs1057517394
gwascentral	rs1057517394
openSNP	rs1057517394
23andMe	rs1057517394
SNPshot	rs1057517394
SNPdbe	rs1057517394
MSV3d	rs1057517394
GWAS Ctlg	rs1057517394

Max Magnitude

0

ClinVar
Risk	rs1057517394(-;-)
Alt	rs1057517394(-;-)
Reference	Rs1057517394(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.51908431delT
CLNSRC
CLNACC	RCV000412096.1,