rs200511261

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;G)	3	carrier of an autosomal recessive polycystic kidney disease mutation
(G;G)	6	Polycystic Kidney disease

Reference

GRCh38 38.1/142

Chromosome

6

Position

51748086

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs200511261
dbSNP (classic)	rs200511261
ClinGen	rs200511261
ebi	rs200511261
HLI	rs200511261
Exac	rs200511261
Gnomad	rs200511261
Varsome	rs200511261
LitVar	rs200511261
Map	rs200511261
PheGenI	rs200511261
Biobank	rs200511261
1000 genomes	rs200511261
hgdp	rs200511261
ensembl	rs200511261
geneview	rs200511261
scholar	rs200511261
google	rs200511261
pharmgkb	rs200511261
gwascentral	rs200511261
openSNP	rs200511261
23andMe	rs200511261
SNPshot	rs200511261
SNPdbe	rs200511261
MSV3d	rs200511261
GWAS Ctlg	rs200511261

Max Magnitude

6

rs200511261, also known as c.9530T>C, p.Ile3177Thr or I3177T, is a SNP in the PKHD1 gene on chromosome 6.

The risk allele, rs200511261(G), is considered causative for autosomal recessive Polycystic kidney disease.

This SNP is referred to as i5000043 and i6016654 by 23andMe.

ClinVar
Risk	Rs200511261(G;G)
Alt	Rs200511261(G;G)
Reference	Rs200511261(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	PKHD1
CLNDBN	not provided
Reversed	0
HGVS	NC_000006.11:g.51612884A>G
CLNSRC
CLNACC	RCV000444254.1,