rs137852947

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 rs137852947(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51847871

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852947
dbSNP (classic)	rs137852947
ClinGen	rs137852947
ebi	rs137852947
HLI	rs137852947
Exac	rs137852947
Gnomad	rs137852947
Varsome	rs137852947
LitVar	rs137852947
Map	rs137852947
PheGenI	rs137852947
Biobank	rs137852947
1000 genomes	rs137852947
hgdp	rs137852947
ensembl	rs137852947
geneview	rs137852947
scholar	rs137852947
google	rs137852947
pharmgkb	rs137852947
gwascentral	rs137852947
openSNP	rs137852947
23andMe	rs137852947
SNPshot	rs137852947
SNPdbe	rs137852947
MSV3d	rs137852947
GWAS Ctlg	rs137852947

Max Magnitude

3

OMIM	606702
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852947(T;T)
Alt	rs137852947(T;T)
Reference	Rs137852947(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.51712669G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004328.2,