rs137852948

Orientation

minus

Stabilized

minus

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

Make rs137852948(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51659468

Gene	LOC105375087, PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852948
dbSNP (classic)	rs137852948
ClinGen	rs137852948
ebi	rs137852948
HLI	rs137852948
Exac	rs137852948
Gnomad	rs137852948
Varsome	rs137852948
LitVar	rs137852948
Map	rs137852948
PheGenI	rs137852948
Biobank	rs137852948
1000 genomes	rs137852948
hgdp	rs137852948
ensembl	rs137852948
geneview	rs137852948
scholar	rs137852948
google	rs137852948
pharmgkb	rs137852948
gwascentral	rs137852948
openSNP	rs137852948
23andMe	rs137852948
SNPshot	rs137852948
SNPdbe	rs137852948
MSV3d	rs137852948
GWAS Ctlg	rs137852948

Max Magnitude

3

OMIM	606702
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852948(C;C)
Alt	rs137852948(C;C)
Reference	Rs137852948(T;T)
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.51524266A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004329.3,