rs777999875

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	3	Carrier of an autosomal recessive polycystic kidney disease mutation
(T;T)	0	common/normal

Make rs777999875(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

52017497

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs777999875
dbSNP (classic)	rs777999875
ClinGen	rs777999875
ebi	rs777999875
HLI	rs777999875
Exac	rs777999875
Gnomad	rs777999875
Varsome	rs777999875
LitVar	rs777999875
Map	rs777999875
PheGenI	rs777999875
Biobank	rs777999875
1000 genomes	rs777999875
hgdp	rs777999875
ensembl	rs777999875
geneview	rs777999875
scholar	rs777999875
google	rs777999875
pharmgkb	rs777999875
gwascentral	rs777999875
openSNP	rs777999875
23andMe	rs777999875
SNPshot	rs777999875
SNPdbe	rs777999875
MSV3d	rs777999875
GWAS Ctlg	rs777999875

Max Magnitude

3

ClinVar
Risk	rs777999875(C;C)
Alt	rs777999875(C;C)
Reference	Rs777999875(T;T)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51882295T>C
CLNSRC
CLNACC	RCV000411938.1,