rs794727819

Orientation

minus

Stabilized

minus

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

Make rs794727819(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

51659462

Gene	LOC105375087, PKHD1

is a	snp
is	mentioned by
dbSNP	rs794727819
dbSNP (classic)	rs794727819
ClinGen	rs794727819
ebi	rs794727819
HLI	rs794727819
Exac	rs794727819
Gnomad	rs794727819
Varsome	rs794727819
LitVar	rs794727819
Map	rs794727819
PheGenI	rs794727819
Biobank	rs794727819
1000 genomes	rs794727819
hgdp	rs794727819
ensembl	rs794727819
geneview	rs794727819
scholar	rs794727819
google	rs794727819
pharmgkb	rs794727819
gwascentral	rs794727819
openSNP	rs794727819
23andMe	rs794727819
SNPshot	rs794727819
SNPdbe	rs794727819
MSV3d	rs794727819
GWAS Ctlg	rs794727819

Max Magnitude

3

ClinVar
Risk	rs794727819(A;A)
Alt	rs794727819(A;A)
Reference	Rs794727819(T;T)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51524260A>T
CLNSRC
CLNACC	RCV000179598.1,