rs786204241

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 rs786204241(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

51791374

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs786204241
dbSNP (classic)	rs786204241
ClinGen	rs786204241
ebi	rs786204241
HLI	rs786204241
Exac	rs786204241
Gnomad	rs786204241
Varsome	rs786204241
LitVar	rs786204241
Map	rs786204241
PheGenI	rs786204241
Biobank	rs786204241
1000 genomes	rs786204241
hgdp	rs786204241
ensembl	rs786204241
geneview	rs786204241
scholar	rs786204241
google	rs786204241
pharmgkb	rs786204241
gwascentral	rs786204241
openSNP	rs786204241
23andMe	rs786204241
SNPshot	rs786204241
SNPdbe	rs786204241
MSV3d	rs786204241
GWAS Ctlg	rs786204241

Max Magnitude

3

ClinVar
Risk	rs786204241(A;A)
Alt	rs786204241(A;A)
Reference	Rs786204241(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.51656172C>T
CLNSRC
CLNACC	RCV000168405.2,