rs1057516221

Orientation

minus

Stabilized

minus

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

Make rs1057516221(C;T)

Make rs1057516221(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

51887158

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs1057516221
dbSNP (classic)	rs1057516221
ClinGen	rs1057516221
ebi	rs1057516221
HLI	rs1057516221
Exac	rs1057516221
Gnomad	rs1057516221
Varsome	rs1057516221
LitVar	rs1057516221
Map	rs1057516221
PheGenI	rs1057516221
Biobank	rs1057516221
1000 genomes	rs1057516221
hgdp	rs1057516221
ensembl	rs1057516221
geneview	rs1057516221
scholar	rs1057516221
google	rs1057516221
pharmgkb	rs1057516221
gwascentral	rs1057516221
openSNP	rs1057516221
23andMe	rs1057516221
SNPshot	rs1057516221
SNPdbe	rs1057516221
MSV3d	rs1057516221
GWAS Ctlg	rs1057516221

Max Magnitude

0

ClinVar
Risk	rs1057516221(T;T)
Alt	rs1057516221(T;T)
Reference	Rs1057516221(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.51751956G>A
CLNSRC
CLNACC	RCV000410291.1,