rs200391019

Orientation

plus

Stabilized

plus

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

Make rs200391019(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

52024940

Gene

PKHD1

is a	snp
is	mentioned by
dbSNP	rs200391019
dbSNP (classic)	rs200391019
ClinGen	rs200391019
ebi	rs200391019
HLI	rs200391019
Exac	rs200391019
Gnomad	rs200391019
Varsome	rs200391019
LitVar	rs200391019
Map	rs200391019
PheGenI	rs200391019
Biobank	rs200391019
1000 genomes	rs200391019
hgdp	rs200391019
ensembl	rs200391019
geneview	rs200391019
scholar	rs200391019
google	rs200391019
pharmgkb	rs200391019
gwascentral	rs200391019
openSNP	rs200391019
23andMe	rs200391019
SNPshot	rs200391019
SNPdbe	rs200391019
MSV3d	rs200391019
GWAS Ctlg	rs200391019

Max Magnitude

3

ClinVar
Risk	rs200391019(A;A)
Alt	rs200391019(A;A)
Reference	Rs200391019(G;G)
Significance	Other
Disease	Autosomal recessive polycystic kidney disease not provided
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease not provided
Reversed	0
HGVS	NC_000006.11:g.51889738G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000168407.4, RCV000479548.1,