rs1057516407

Orientation

minus

Stabilized

minus

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

Make rs1057516407(A;G)

Make rs1057516407(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51960028

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516407
dbSNP (classic)	rs1057516407
ClinGen	rs1057516407
ebi	rs1057516407
HLI	rs1057516407
Exac	rs1057516407
Gnomad	rs1057516407
Varsome	rs1057516407
LitVar	rs1057516407
Map	rs1057516407
PheGenI	rs1057516407
Biobank	rs1057516407
1000 genomes	rs1057516407
hgdp	rs1057516407
ensembl	rs1057516407
geneview	rs1057516407
scholar	rs1057516407
google	rs1057516407
pharmgkb	rs1057516407
gwascentral	rs1057516407
openSNP	rs1057516407
23andMe	rs1057516407
SNPshot	rs1057516407
SNPdbe	rs1057516407
MSV3d	rs1057516407
GWAS Ctlg	rs1057516407

Max Magnitude

0

ClinVar
Risk	rs1057516407(G;G)
Alt	rs1057516407(G;G)
Reference	Rs1057516407(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.51824826T>C
CLNSRC
CLNACC	RCV000409067.1,