rs181208607

Orientation

plus

Stabilized

plus

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

Make rs181208607(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

51847966

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs181208607
dbSNP (classic)	rs181208607
ClinGen	rs181208607
ebi	rs181208607
HLI	rs181208607
Exac	rs181208607
Gnomad	rs181208607
Varsome	rs181208607
LitVar	rs181208607
Map	rs181208607
PheGenI	rs181208607
Biobank	rs181208607
1000 genomes	rs181208607
hgdp	rs181208607
ensembl	rs181208607
geneview	rs181208607
scholar	rs181208607
google	rs181208607
pharmgkb	rs181208607
gwascentral	rs181208607
openSNP	rs181208607
23andMe	rs181208607
SNPshot	rs181208607
SNPdbe	rs181208607
MSV3d	rs181208607
GWAS Ctlg	rs181208607

Max Magnitude

3

ClinVar
Risk	rs181208607(T;T)
Alt	rs181208607(T;T)
Reference	Rs181208607(G;G)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease Polycystic kidney dysplasia
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease Polycystic kidney dysplasia
Reversed	0
HGVS	NC_000006.11:g.51712764G>T
CLNSRC
CLNACC	RCV000169564.1, RCV000415427.1,