rs746838237

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(;)	0	common in clinvar
(-;-)	0	common/normal
(-;T)	3	carrier of a polycystic kidney disease allele
(T;T)	6	Polycystic kidney disease

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

51959882

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs746838237
dbSNP (classic)	rs746838237
ClinGen	rs746838237
ebi	rs746838237
HLI	rs746838237
Exac	rs746838237
Gnomad	rs746838237
Varsome	rs746838237
LitVar	rs746838237
Map	rs746838237
PheGenI	rs746838237
Biobank	rs746838237
1000 genomes	rs746838237
hgdp	rs746838237
ensembl	rs746838237
geneview	rs746838237
scholar	rs746838237
google	rs746838237
pharmgkb	rs746838237
gwascentral	rs746838237
openSNP	rs746838237
23andMe	rs746838237
SNPshot	rs746838237
SNPdbe	rs746838237
MSV3d	rs746838237
GWAS Ctlg	rs746838237

Max Magnitude

6

rs746838237, also known as c.5895dupA or p.Leu1966fs, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs746838237(T), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is most likely referred to as i5012609 by 23andMe.

ClinVar
Risk	Rs746838237(T;T)
Alt	Rs746838237(T;T)
Reference	Rs746838237(-;-)
Significance	Pathogenic
Disease	not provided Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	not provided Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51824681dupT
CLNSRC	HGMD
CLNACC	RCV000153714.2, RCV000177889.2,