rs398124486

Orientation

minus

Stabilized

minus

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

Make rs398124486(TATTCCCC;TATTCCCC)

Reference

GRCh38 38.1/141

Chromosome

6

Position

52025395

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs398124486
dbSNP (classic)	rs398124486
ClinGen	rs398124486
ebi	rs398124486
HLI	rs398124486
Exac	rs398124486
Gnomad	rs398124486
Varsome	rs398124486
LitVar	rs398124486
Map	rs398124486
PheGenI	rs398124486
Biobank	rs398124486
1000 genomes	rs398124486
hgdp	rs398124486
ensembl	rs398124486
geneview	rs398124486
scholar	rs398124486
google	rs398124486
pharmgkb	rs398124486
gwascentral	rs398124486
openSNP	rs398124486
23andMe	rs398124486
SNPshot	rs398124486
SNPdbe	rs398124486
MSV3d	rs398124486
GWAS Ctlg	rs398124486

Max Magnitude

3

ClinVar
Risk	rs398124486(TATTCCCC;TATTCCCC)
Alt	rs398124486(TATTCCCC;TATTCCCC)
Reference	Rs398124486(G;G)
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.51890193delCinsGGGGAATA
CLNSRC	ClinVar
CLNACC	RCV000082554.3, RCV000177670.1,