rs794727680

Orientation

minus

Stabilized

minus

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

Make rs794727680(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

51885888

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs794727680
dbSNP (classic)	rs794727680
ClinGen	rs794727680
ebi	rs794727680
HLI	rs794727680
Exac	rs794727680
Gnomad	rs794727680
Varsome	rs794727680
LitVar	rs794727680
Map	rs794727680
PheGenI	rs794727680
Biobank	rs794727680
1000 genomes	rs794727680
hgdp	rs794727680
ensembl	rs794727680
geneview	rs794727680
scholar	rs794727680
google	rs794727680
pharmgkb	rs794727680
gwascentral	rs794727680
openSNP	rs794727680
23andMe	rs794727680
SNPshot	rs794727680
SNPdbe	rs794727680
MSV3d	rs794727680
GWAS Ctlg	rs794727680

Max Magnitude

3

ClinVar
Risk	rs794727680(A;A)
Alt	rs794727680(A;A)
Reference	Rs794727680(G;G)
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.51750686C>T
CLNSRC
CLNACC	RCV000178588.1,