rs137852950

Orientation

minus

Stabilized

minus

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

Make rs137852950(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51659714

Gene	LOC105375087, PKHD1

is a	snp
is	mentioned by
dbSNP	rs137852950
dbSNP (classic)	rs137852950
ClinGen	rs137852950
ebi	rs137852950
HLI	rs137852950
Exac	rs137852950
Gnomad	rs137852950
Varsome	rs137852950
LitVar	rs137852950
Map	rs137852950
PheGenI	rs137852950
Biobank	rs137852950
1000 genomes	rs137852950
hgdp	rs137852950
ensembl	rs137852950
geneview	rs137852950
scholar	rs137852950
google	rs137852950
pharmgkb	rs137852950
gwascentral	rs137852950
openSNP	rs137852950
23andMe	rs137852950
SNPshot	rs137852950
SNPdbe	rs137852950
MSV3d	rs137852950
GWAS Ctlg	rs137852950

Max Magnitude

3

OMIM	606702
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852950(G;G)
Alt	rs137852950(G;G)
Reference	Rs137852950(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.51524512A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004331.3,