rs1060499702

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;C)	5	Polycystic Kidney Disease (predicted)
(C;C)	0	common in clinvar

Make rs1060499702(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2108743

Gene	MIR6511B1, PKD1

is a	snp
is	mentioned by
dbSNP	rs1060499702
dbSNP (classic)	rs1060499702
ClinGen	rs1060499702
ebi	rs1060499702
HLI	rs1060499702
Exac	rs1060499702
Gnomad	rs1060499702
Varsome	rs1060499702
LitVar	rs1060499702
Map	rs1060499702
PheGenI	rs1060499702
Biobank	rs1060499702
1000 genomes	rs1060499702
hgdp	rs1060499702
ensembl	rs1060499702
geneview	rs1060499702
scholar	rs1060499702
google	rs1060499702
pharmgkb	rs1060499702
gwascentral	rs1060499702
openSNP	rs1060499702
23andMe	rs1060499702
SNPshot	rs1060499702
SNPdbe	rs1060499702
MSV3d	rs1060499702
GWAS Ctlg	rs1060499702

Max Magnitude

5

c.6424delC (p.Gln2142Argfs)

Listed in ClinVar as pathogenic for autosomal dominant polycystic kidney disease

ClinVar
Risk	rs1060499702(-;-)
Alt	rs1060499702(-;-)
Reference	Rs1060499702(C;C)
Significance	Pathogenic
Disease	Polycystic kidney disease
Variation	info
Gene	MIR6511B1 PKD1
CLNDBN	Polycystic kidney disease, adult type
Reversed	1
HGVS	NC_000016.9:g.2158744delG
CLNSRC
CLNACC	RCV000449609.1,