rs137852945

Orientation

minus

Stabilized

minus

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

Make rs137852945(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51748563

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852945
dbSNP (classic)	rs137852945
ClinGen	rs137852945
ebi	rs137852945
HLI	rs137852945
Exac	rs137852945
Gnomad	rs137852945
Varsome	rs137852945
LitVar	rs137852945
Map	rs137852945
PheGenI	rs137852945
Biobank	rs137852945
1000 genomes	rs137852945
hgdp	rs137852945
ensembl	rs137852945
geneview	rs137852945
scholar	rs137852945
google	rs137852945
pharmgkb	rs137852945
gwascentral	rs137852945
openSNP	rs137852945
23andMe	rs137852945
SNPshot	rs137852945
SNPdbe	rs137852945
MSV3d	rs137852945
GWAS Ctlg	rs137852945

Max Magnitude

3

OMIM	606702
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852945(T;T)
Alt	rs137852945(T;T)
Reference	Rs137852945(C;C)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51613361G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004326.3,