rs398124496

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 rs398124496(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51791268

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124496
dbSNP (classic)	rs398124496
ClinGen	rs398124496
ebi	rs398124496
HLI	rs398124496
Exac	rs398124496
Gnomad	rs398124496
Varsome	rs398124496
LitVar	rs398124496
Map	rs398124496
PheGenI	rs398124496
Biobank	rs398124496
1000 genomes	rs398124496
hgdp	rs398124496
ensembl	rs398124496
geneview	rs398124496
scholar	rs398124496
google	rs398124496
pharmgkb	rs398124496
gwascentral	rs398124496
openSNP	rs398124496
23andMe	rs398124496
SNPshot	rs398124496
SNPdbe	rs398124496
MSV3d	rs398124496
GWAS Ctlg	rs398124496

Max Magnitude

3

ClinVar
Risk	rs398124496(A;A)
Alt	rs398124496(A;A)
Reference	Rs398124496(G;G)
Significance	Probable-Pathogenic
Disease	not provided Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	not provided Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51656066C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000082583.3, RCV000179136.1,