rs1057516413

Orientation

minus

Stabilized

minus

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

Make rs1057516413(-;CCAT)

Make rs1057516413(CCAT;CCAT)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51748142

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516413
dbSNP (classic)	rs1057516413
ClinGen	rs1057516413
ebi	rs1057516413
HLI	rs1057516413
Exac	rs1057516413
Gnomad	rs1057516413
Varsome	rs1057516413
LitVar	rs1057516413
Map	rs1057516413
PheGenI	rs1057516413
Biobank	rs1057516413
1000 genomes	rs1057516413
hgdp	rs1057516413
ensembl	rs1057516413
geneview	rs1057516413
scholar	rs1057516413
google	rs1057516413
pharmgkb	rs1057516413
gwascentral	rs1057516413
openSNP	rs1057516413
23andMe	rs1057516413
SNPshot	rs1057516413
SNPdbe	rs1057516413
MSV3d	rs1057516413
GWAS Ctlg	rs1057516413

Max Magnitude

0

ClinVar
Risk	rs1057516413(CCAT;CCAT)
Alt	rs1057516413(CCAT;CCAT)
Reference	Rs1057516413(-;-)
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.51612941_51612944dupATGG
CLNSRC
CLNACC	RCV000409842.1,