rs398124503

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 rs398124503(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52062655

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124503
dbSNP (classic)	rs398124503
ClinGen	rs398124503
ebi	rs398124503
HLI	rs398124503
Exac	rs398124503
Gnomad	rs398124503
Varsome	rs398124503
LitVar	rs398124503
Map	rs398124503
PheGenI	rs398124503
Biobank	rs398124503
1000 genomes	rs398124503
hgdp	rs398124503
ensembl	rs398124503
geneview	rs398124503
scholar	rs398124503
google	rs398124503
pharmgkb	rs398124503
gwascentral	rs398124503
openSNP	rs398124503
23andMe	rs398124503
SNPshot	rs398124503
SNPdbe	rs398124503
MSV3d	rs398124503
GWAS Ctlg	rs398124503

Max Magnitude

3

ClinVar
Risk	rs398124503(T;T)
Alt	rs398124503(T;T)
Reference	Rs398124503(C;C)
Significance	Other
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.51927453G>A
CLNSRC	HGMD
CLNACC	RCV000082595.3, RCV000174804.1,