rs786205582

Orientation

minus

Stabilized

minus

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

Make rs786205582(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

52042978

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs786205582
dbSNP (classic)	rs786205582
ClinGen	rs786205582
ebi	rs786205582
HLI	rs786205582
Exac	rs786205582
Gnomad	rs786205582
Varsome	rs786205582
LitVar	rs786205582
Map	rs786205582
PheGenI	rs786205582
Biobank	rs786205582
1000 genomes	rs786205582
hgdp	rs786205582
ensembl	rs786205582
geneview	rs786205582
scholar	rs786205582
google	rs786205582
pharmgkb	rs786205582
gwascentral	rs786205582
openSNP	rs786205582
23andMe	rs786205582
SNPshot	rs786205582
SNPdbe	rs786205582
MSV3d	rs786205582
GWAS Ctlg	rs786205582

Max Magnitude

3

ClinVar
Risk	rs786205582(G;G)
Alt	rs786205582(G;G)
Reference	Rs786205582(A;A)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	PKHD1
CLNDBN	not provided
Reversed	1
HGVS	NC_000006.11:g.51907776T>C
CLNSRC
CLNACC	RCV000171399.1,