rs745770404

Orientation

plus

Stabilized

plus

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

Make rs745770404(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52050157

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs745770404
dbSNP (classic)	rs745770404
ClinGen	rs745770404
ebi	rs745770404
HLI	rs745770404
Exac	rs745770404
Gnomad	rs745770404
Varsome	rs745770404
LitVar	rs745770404
Map	rs745770404
PheGenI	rs745770404
Biobank	rs745770404
1000 genomes	rs745770404
hgdp	rs745770404
ensembl	rs745770404
geneview	rs745770404
scholar	rs745770404
google	rs745770404
pharmgkb	rs745770404
gwascentral	rs745770404
openSNP	rs745770404
23andMe	rs745770404
SNPshot	rs745770404
SNPdbe	rs745770404
MSV3d	rs745770404
GWAS Ctlg	rs745770404

Max Magnitude

3

ClinVar
Risk	rs745770404(T;T)
Alt	rs745770404(T;T)
Reference	Rs745770404(C;C)
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.51914955C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169230.1,