rs398124495

Orientation

minus

Stabilized

minus

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

Make rs398124495(C;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

51791269

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124495
dbSNP (classic)	rs398124495
ClinGen	rs398124495
ebi	rs398124495
HLI	rs398124495
Exac	rs398124495
Gnomad	rs398124495
Varsome	rs398124495
LitVar	rs398124495
Map	rs398124495
PheGenI	rs398124495
Biobank	rs398124495
1000 genomes	rs398124495
hgdp	rs398124495
ensembl	rs398124495
geneview	rs398124495
scholar	rs398124495
google	rs398124495
pharmgkb	rs398124495
gwascentral	rs398124495
openSNP	rs398124495
23andMe	rs398124495
SNPshot	rs398124495
SNPdbe	rs398124495
MSV3d	rs398124495
GWAS Ctlg	rs398124495

Max Magnitude

3

ClinVar
Risk	rs398124495(C;C)
Alt	rs398124495(C;C)
Reference	Rs398124495(T;T)
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.51656067A>G
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000082582.3, RCV000179135.2,