rs28937907

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	carrier of a possible polycystic kidney disease allele
(T;T)	6	possible polycystic kidney disease

Reference

GRCh38 38.1/141

Chromosome

6

Position

52024819

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs28937907
dbSNP (classic)	rs28937907
ClinGen	rs28937907
ebi	rs28937907
HLI	rs28937907
Exac	rs28937907
Gnomad	rs28937907
Varsome	rs28937907
LitVar	rs28937907
Map	rs28937907
PheGenI	rs28937907
Biobank	rs28937907
1000 genomes	rs28937907
hgdp	rs28937907
ensembl	rs28937907
geneview	rs28937907
scholar	rs28937907
google	rs28937907
pharmgkb	rs28937907
gwascentral	rs28937907
openSNP	rs28937907
23andMe	rs28937907
SNPshot	rs28937907
SNPdbe	rs28937907
MSV3d	rs28937907
GWAS Ctlg	rs28937907

Max Magnitude

6

Polycystic Kidney disease

OMIM	606702
Desc	POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
Variant	0002
Related	also

ClinVar
Risk	Rs28937907(T;T)
Alt	Rs28937907(T;T)
Reference	Rs28937907(C;C)
Significance	Pathogenic
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	1
HGVS	NC_000006.11:g.51889617G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004325.4,