rs148617572

Orientation

plus

Stabilized

plus

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

Make rs148617572(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

51659682

Gene	LOC105375087, PKHD1

is a	snp
is	mentioned by
dbSNP	rs148617572
dbSNP (classic)	rs148617572
ClinGen	rs148617572
ebi	rs148617572
HLI	rs148617572
Exac	rs148617572
Gnomad	rs148617572
Varsome	rs148617572
LitVar	rs148617572
Map	rs148617572
PheGenI	rs148617572
Biobank	rs148617572
1000 genomes	rs148617572
hgdp	rs148617572
ensembl	rs148617572
geneview	rs148617572
scholar	rs148617572
google	rs148617572
pharmgkb	rs148617572
gwascentral	rs148617572
openSNP	rs148617572
23andMe	rs148617572
SNPshot	rs148617572
SNPdbe	rs148617572
MSV3d	rs148617572
GWAS Ctlg	rs148617572

Max Magnitude

3

ClinVar
Risk	rs148617572(A;A)
Alt	rs148617572(A;A)
Reference	Rs148617572(G;G)
Significance	Other
Disease	Autosomal recessive polycystic kidney disease
Variation	info
Gene	PKHD1
CLNDBN	Autosomal recessive polycystic kidney disease
Reversed	0
HGVS	NC_000006.11:g.51524480G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000169255.2,