rs754392766

Orientation

plus

Stabilized

plus

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

Make rs754392766(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52058355

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs754392766
dbSNP (classic)	rs754392766
ClinGen	rs754392766
ebi	rs754392766
HLI	rs754392766
Exac	rs754392766
Gnomad	rs754392766
Varsome	rs754392766
LitVar	rs754392766
Map	rs754392766
PheGenI	rs754392766
Biobank	rs754392766
1000 genomes	rs754392766
hgdp	rs754392766
ensembl	rs754392766
geneview	rs754392766
scholar	rs754392766
google	rs754392766
pharmgkb	rs754392766
gwascentral	rs754392766
openSNP	rs754392766
23andMe	rs754392766
SNPshot	rs754392766
SNPdbe	rs754392766
MSV3d	rs754392766
GWAS Ctlg	rs754392766

Max Magnitude

3

ClinVar
Risk	rs754392766(A;A)
Alt	rs754392766(A;A)
Reference	Rs754392766(G;G)
Significance	Other
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51923153G>A
CLNSRC
CLNACC	RCV000169415.2,