rs149798764

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common/normal
(A;G)	3	Carrier of an autosomal recessive polycystic kidney disease mutation
(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

51744505

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs149798764
dbSNP (classic)	rs149798764
ClinGen	rs149798764
ebi	rs149798764
HLI	rs149798764
Exac	rs149798764
Gnomad	rs149798764
Varsome	rs149798764
LitVar	rs149798764
Map	rs149798764
PheGenI	rs149798764
Biobank	rs149798764
1000 genomes	rs149798764
hgdp	rs149798764
ensembl	rs149798764
geneview	rs149798764
scholar	rs149798764
google	rs149798764
pharmgkb	rs149798764
gwascentral	rs149798764
openSNP	rs149798764
23andMe	rs149798764
SNPshot	rs149798764
SNPdbe	rs149798764
MSV3d	rs149798764
GWAS Ctlg	rs149798764

Max Magnitude

3

ClinVar
Risk	Rs149798764(G;G)
Alt	Rs149798764(G;G)
Reference	Rs149798764(A;A)
Significance	Unknown
Disease	not specified Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	not specified Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51609303A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000179584.2, RCV000195797.1,