rs398124491

Orientation

minus

Stabilized

minus

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

Make rs398124491(G;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52070431

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124491
dbSNP (classic)	rs398124491
ClinGen	rs398124491
ebi	rs398124491
HLI	rs398124491
Exac	rs398124491
Gnomad	rs398124491
Varsome	rs398124491
LitVar	rs398124491
Map	rs398124491
PheGenI	rs398124491
Biobank	rs398124491
1000 genomes	rs398124491
hgdp	rs398124491
ensembl	rs398124491
geneview	rs398124491
scholar	rs398124491
google	rs398124491
pharmgkb	rs398124491
gwascentral	rs398124491
openSNP	rs398124491
23andMe	rs398124491
SNPshot	rs398124491
SNPdbe	rs398124491
MSV3d	rs398124491
GWAS Ctlg	rs398124491

Max Magnitude

3

ClinVar
Risk	rs398124491(G;G)
Alt	rs398124491(G;G)
Reference	Rs398124491(A;A)
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.51935229T>C
CLNSRC	ClinVar Emory University
CLNACC	RCV000082568.3, RCV000173921.1,