rs121918039

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Polycystic kidney disease, autosomal dominant form (predicted)
(G;G)	0	common in clinvar

Make rs121918039(A;A)

Reference

GRCh38 38.1/141

Chromosome

4

Position

88043277

Gene

PKD2

is a	snp
is	mentioned by
dbSNP	rs121918039
dbSNP (classic)	rs121918039
ClinGen	rs121918039
ebi	rs121918039
HLI	rs121918039
Exac	rs121918039
Gnomad	rs121918039
Varsome	rs121918039
LitVar	rs121918039
Map	rs121918039
PheGenI	rs121918039
Biobank	rs121918039
1000 genomes	rs121918039
hgdp	rs121918039
ensembl	rs121918039
geneview	rs121918039
scholar	rs121918039
google	rs121918039
pharmgkb	rs121918039
gwascentral	rs121918039
openSNP	rs121918039
23andMe	rs121918039
SNPshot	rs121918039
SNPdbe	rs121918039
MSV3d	rs121918039
GWAS Ctlg	rs121918039

Max Magnitude

5

aka c.1139G>A (p.Trp380Ter)

23andMe name: i5047424

OMIM	173910
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918039(A;A)
Alt	rs121918039(A;A)
Reference	Rs121918039(G;G)
Significance	Pathogenic
Disease	Polycystic kidney disease 2
Variation	info
Gene	PKD2
CLNDBN	Polycystic kidney disease 2
Reversed	0
HGVS	NC_000004.11:g.88964429G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014472.19,