rs121918041

Orientation

plus

Stabilized

plus

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

Make rs121918041(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

88043351

Gene

PKD2

is a	snp
is	mentioned by
dbSNP	rs121918041
dbSNP (classic)	rs121918041
ClinGen	rs121918041
ebi	rs121918041
HLI	rs121918041
Exac	rs121918041
Gnomad	rs121918041
Varsome	rs121918041
LitVar	rs121918041
Map	rs121918041
PheGenI	rs121918041
Biobank	rs121918041
1000 genomes	rs121918041
hgdp	rs121918041
ensembl	rs121918041
geneview	rs121918041
scholar	rs121918041
google	rs121918041
pharmgkb	rs121918041
gwascentral	rs121918041
openSNP	rs121918041
23andMe	rs121918041
SNPshot	rs121918041
SNPdbe	rs121918041
MSV3d	rs121918041
GWAS Ctlg	rs121918041

Max Magnitude

5

aka c.1213C>T (p.Gln405Ter)

23andMe name: i5002465

OMIM	173910
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121918041(T;T)
Alt	rs121918041(T;T)
Reference	Rs121918041(C;C)
Significance	Pathogenic
Disease	Polycystic kidney disease 2
Variation	info
Gene	PKD2
CLNDBN	Polycystic kidney disease 2
Reversed	0
HGVS	NC_000004.11:g.88964503C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000014474.27,