rs771623148

Orientation

plus

Stabilized

plus

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

Make rs771623148(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

51659673

Gene	LOC105375087, PKHD1

is a	snp
is	mentioned by
dbSNP	rs771623148
dbSNP (classic)	rs771623148
ClinGen	rs771623148
ebi	rs771623148
HLI	rs771623148
Exac	rs771623148
Gnomad	rs771623148
Varsome	rs771623148
LitVar	rs771623148
Map	rs771623148
PheGenI	rs771623148
Biobank	rs771623148
1000 genomes	rs771623148
hgdp	rs771623148
ensembl	rs771623148
geneview	rs771623148
scholar	rs771623148
google	rs771623148
pharmgkb	rs771623148
gwascentral	rs771623148
openSNP	rs771623148
23andMe	rs771623148
SNPshot	rs771623148
SNPdbe	rs771623148
MSV3d	rs771623148
GWAS Ctlg	rs771623148

Max Magnitude

3

ClinVar
Risk	rs771623148(A;A)
Alt	rs771623148(A;A)
Reference	Rs771623148(-;-)
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.51524472dupA
CLNSRC
CLNACC	RCV000169490.1,