rs398124500

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 rs398124500(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51753327

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124500
dbSNP (classic)	rs398124500
ClinGen	rs398124500
ebi	rs398124500
HLI	rs398124500
Exac	rs398124500
Gnomad	rs398124500
Varsome	rs398124500
LitVar	rs398124500
Map	rs398124500
PheGenI	rs398124500
Biobank	rs398124500
1000 genomes	rs398124500
hgdp	rs398124500
ensembl	rs398124500
geneview	rs398124500
scholar	rs398124500
google	rs398124500
pharmgkb	rs398124500
gwascentral	rs398124500
openSNP	rs398124500
23andMe	rs398124500
SNPshot	rs398124500
SNPdbe	rs398124500
MSV3d	rs398124500
GWAS Ctlg	rs398124500

Max Magnitude

3

ClinVar
Risk	rs398124500(T;T)
Alt	rs398124500(T;T)
Reference	Rs398124500(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.51618125G>A
CLNSRC	HGMD
CLNACC	RCV000082589.3, RCV000169555.2,