rs199476102

Polycystic Kidney disease

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	5	Polycystic Kidney Disease (predicted)
(G;G)	0	common in clinvar

Make rs199476102(A;A)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2090309

Gene	LOC105371049, MIR1225, PKD1

is a	snp
is	mentioned by
dbSNP	rs199476102
dbSNP (classic)	rs199476102
ClinGen	rs199476102
ebi	rs199476102
HLI	rs199476102
Exac	rs199476102
Gnomad	rs199476102
Varsome	rs199476102
LitVar	rs199476102
Map	rs199476102
PheGenI	rs199476102
Biobank	rs199476102
1000 genomes	rs199476102
hgdp	rs199476102
ensembl	rs199476102
geneview	rs199476102
scholar	rs199476102
google	rs199476102
pharmgkb	rs199476102
gwascentral	rs199476102
openSNP	rs199476102
23andMe	rs199476102
SNPshot	rs199476102
SNPdbe	rs199476102
MSV3d	rs199476102
GWAS Ctlg	rs199476102

Max Magnitude

5

Polycystic Kidney disease; see OMIM 601313.0015

NM_001009944.2:c.12420G>A

The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database.

ClinVar
Risk	rs199476102(A;A)
Alt	rs199476102(A;A)
Reference	Rs199476102(G;G)
Significance	Pathogenic
Disease	Polycystic kidney disease
Variation	info
Gene	PKD1 MIR1225 LOC105371049
CLNDBN	Polycystic kidney disease, adult type
Reversed	1
HGVS	NC_000016.9:g.2140310C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008692.3,