rs368263958

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	7	Autosomal recessive polycystic kidney disease
(A;G)	3	Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G)	0	common in clinvar
(G;T)	3	Carrier of a rare variant in the PKHD1 gene, of uncertain significance

Make rs368263958(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

51909466

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs368263958
dbSNP (classic)	rs368263958
ClinGen	rs368263958
ebi	rs368263958
HLI	rs368263958
Exac	rs368263958
Gnomad	rs368263958
Varsome	rs368263958
LitVar	rs368263958
Map	rs368263958
PheGenI	rs368263958
Biobank	rs368263958
1000 genomes	rs368263958
hgdp	rs368263958
ensembl	rs368263958
geneview	rs368263958
scholar	rs368263958
google	rs368263958
pharmgkb	rs368263958
gwascentral	rs368263958
openSNP	rs368263958
23andMe	rs368263958
SNPshot	rs368263958
SNPdbe	rs368263958
MSV3d	rs368263958
GWAS Ctlg	rs368263958

Max Magnitude

7

ClinVar
Risk	Rs368263958(A;A) rs368263958(T;T)
Alt	Rs368263958(A;A) rs368263958(T;T)
Reference	Rs368263958(G;G)
Significance	Pathogenic
Disease	not provided Autosomal recessive polycystic kidney disease not specified
Variation	info
Gene	PKHD1
CLNDBN	not provided Autosomal recessive polycystic kidney disease not specified
Reversed	0
HGVS	NC_000006.11:g.51774264G>A; NC_000006.11:g.51774264G>T
CLNSRC
CLNACC	RCV000153713.2, RCV000178448.1, RCV000350995.1,