rs794727037

Orientation

minus

Stabilized

minus

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

Make rs794727037(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52069470

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs794727037
dbSNP (classic)	rs794727037
ClinGen	rs794727037
ebi	rs794727037
HLI	rs794727037
Exac	rs794727037
Gnomad	rs794727037
Varsome	rs794727037
LitVar	rs794727037
Map	rs794727037
PheGenI	rs794727037
Biobank	rs794727037
1000 genomes	rs794727037
hgdp	rs794727037
ensembl	rs794727037
geneview	rs794727037
scholar	rs794727037
google	rs794727037
pharmgkb	rs794727037
gwascentral	rs794727037
openSNP	rs794727037
23andMe	rs794727037
SNPshot	rs794727037
SNPdbe	rs794727037
MSV3d	rs794727037
GWAS Ctlg	rs794727037

Max Magnitude

3

ClinVar
Risk	rs794727037(G;G)
Alt	rs794727037(G;G)
Reference	Rs794727037(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.51934268G>C
CLNSRC
CLNACC	RCV000174176.1,