rs398124487

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 rs398124487(A;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52024573

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124487
dbSNP (classic)	rs398124487
ClinGen	rs398124487
ebi	rs398124487
HLI	rs398124487
Exac	rs398124487
Gnomad	rs398124487
Varsome	rs398124487
LitVar	rs398124487
Map	rs398124487
PheGenI	rs398124487
Biobank	rs398124487
1000 genomes	rs398124487
hgdp	rs398124487
ensembl	rs398124487
geneview	rs398124487
scholar	rs398124487
google	rs398124487
pharmgkb	rs398124487
gwascentral	rs398124487
openSNP	rs398124487
23andMe	rs398124487
SNPshot	rs398124487
SNPdbe	rs398124487
MSV3d	rs398124487
GWAS Ctlg	rs398124487

Max Magnitude

3

ClinVar
Risk	rs398124487(A;A)
Alt	rs398124487(A;A)
Reference	Rs398124487(G;G)
Significance	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.51889371C>T
CLNSRC	ClinVar
CLNACC	RCV000082556.3, RCV000177669.1,