rs398124478

Orientation

minus

Stabilized

minus

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

Make rs398124478(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52048558

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124478
dbSNP (classic)	rs398124478
ClinGen	rs398124478
ebi	rs398124478
HLI	rs398124478
Exac	rs398124478
Gnomad	rs398124478
Varsome	rs398124478
LitVar	rs398124478
Map	rs398124478
PheGenI	rs398124478
Biobank	rs398124478
1000 genomes	rs398124478
hgdp	rs398124478
ensembl	rs398124478
geneview	rs398124478
scholar	rs398124478
google	rs398124478
pharmgkb	rs398124478
gwascentral	rs398124478
openSNP	rs398124478
23andMe	rs398124478
SNPshot	rs398124478
SNPdbe	rs398124478
MSV3d	rs398124478
GWAS Ctlg	rs398124478

Max Magnitude

3

ClinVar
Risk	rs398124478(T;T)
Alt	rs398124478(T;T)
Reference	Rs398124478(C;C)
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.51913356G>A
CLNSRC	HGMD
CLNACC	RCV000082537.3, RCV000176433.2,