rs1057516345

Orientation

minus

Stabilized

minus

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

Make rs1057516345(C;G)

Make rs1057516345(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51659417

Gene	LOC105375087, PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516345
dbSNP (classic)	rs1057516345
ClinGen	rs1057516345
ebi	rs1057516345
HLI	rs1057516345
Exac	rs1057516345
Gnomad	rs1057516345
Varsome	rs1057516345
LitVar	rs1057516345
Map	rs1057516345
PheGenI	rs1057516345
Biobank	rs1057516345
1000 genomes	rs1057516345
hgdp	rs1057516345
ensembl	rs1057516345
geneview	rs1057516345
scholar	rs1057516345
google	rs1057516345
pharmgkb	rs1057516345
gwascentral	rs1057516345
openSNP	rs1057516345
23andMe	rs1057516345
SNPshot	rs1057516345
SNPdbe	rs1057516345
MSV3d	rs1057516345
GWAS Ctlg	rs1057516345

Max Magnitude

0

ClinVar
Risk	rs1057516345(G;G)
Alt	rs1057516345(G;G)
Reference	Rs1057516345(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.51524215G>C
CLNSRC
CLNACC	RCV000410089.1,