rs2435322

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics
(G;T)	0	considered benign
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

52010452

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs2435322
dbSNP (classic)	rs2435322
ClinGen	rs2435322
ebi	rs2435322
HLI	rs2435322
Exac	rs2435322
Gnomad	rs2435322
Varsome	rs2435322
LitVar	rs2435322
Map	rs2435322
PheGenI	rs2435322
Biobank	rs2435322
1000 genomes	rs2435322
hgdp	rs2435322
ensembl	rs2435322
geneview	rs2435322
scholar	rs2435322
google	rs2435322
pharmgkb	rs2435322
gwascentral	rs2435322
openSNP	rs2435322
23andMe	rs2435322
SNPshot	rs2435322
SNPdbe	rs2435322
MSV3d	rs2435322
GWAS Ctlg	rs2435322

GMAF

0.03214

Max Magnitude

0

Although a SNP in the PKHD1 gene, this variant is considered benign in ClinVar and not causative for any disorder.

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	Rs2435322(G;G)
Alt	Rs2435322(G;G)
Reference	Rs2435322(T;T)
Significance	Non-pathogenic
Disease	not specified Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	not specified Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51875250A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000082560.6, RCV000329286.1,