rs749293235

Orientation

plus

Stabilized

plus

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

Make rs749293235(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52055593

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs749293235
dbSNP (classic)	rs749293235
ClinGen	rs749293235
ebi	rs749293235
HLI	rs749293235
Exac	rs749293235
Gnomad	rs749293235
Varsome	rs749293235
LitVar	rs749293235
Map	rs749293235
PheGenI	rs749293235
Biobank	rs749293235
1000 genomes	rs749293235
hgdp	rs749293235
ensembl	rs749293235
geneview	rs749293235
scholar	rs749293235
google	rs749293235
pharmgkb	rs749293235
gwascentral	rs749293235
openSNP	rs749293235
23andMe	rs749293235
SNPshot	rs749293235
SNPdbe	rs749293235
MSV3d	rs749293235
GWAS Ctlg	rs749293235

Max Magnitude

3

ClinVar
Risk	rs749293235(T;T)
Alt	rs749293235(T;T)
Reference	Rs749293235(A;A)
Significance	Probable-Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51920391A>T
CLNSRC
CLNACC	RCV000169512.1,