rs137852946

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	possible polycystic kidney disease
(A;G)	3	carrier of a possible polycystic kidney disease allele
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

6

Position

52024589

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852946
dbSNP (classic)	rs137852946
ClinGen	rs137852946
ebi	rs137852946
HLI	rs137852946
Exac	rs137852946
Gnomad	rs137852946
Varsome	rs137852946
LitVar	rs137852946
Map	rs137852946
PheGenI	rs137852946
Biobank	rs137852946
1000 genomes	rs137852946
hgdp	rs137852946
ensembl	rs137852946
geneview	rs137852946
scholar	rs137852946
google	rs137852946
pharmgkb	rs137852946
gwascentral	rs137852946
openSNP	rs137852946
23andMe	rs137852946
SNPshot	rs137852946
SNPdbe	rs137852946
MSV3d	rs137852946
GWAS Ctlg	rs137852946

Merged from

Rs28939099

Max Magnitude

6

OMIM	606702
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs137852946(A;A)
Alt	Rs137852946(A;A)
Reference	Rs137852946(G;G)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease not specified
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease not specified
Reversed	1
HGVS	NC_000006.11:g.51889387C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004327.2, RCV000153715.3,