rs121918043

Orientation

plus

Stabilized

plus

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

Make rs121918043(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

88046854

Gene

PKD2

is a	snp
is	mentioned by
dbSNP	rs121918043
dbSNP (classic)	rs121918043
ClinGen	rs121918043
ebi	rs121918043
HLI	rs121918043
Exac	rs121918043
Gnomad	rs121918043
Varsome	rs121918043
LitVar	rs121918043
Map	rs121918043
PheGenI	rs121918043
Biobank	rs121918043
1000 genomes	rs121918043
hgdp	rs121918043
ensembl	rs121918043
geneview	rs121918043
scholar	rs121918043
google	rs121918043
pharmgkb	rs121918043
gwascentral	rs121918043
openSNP	rs121918043
23andMe	rs121918043
SNPshot	rs121918043
SNPdbe	rs121918043
MSV3d	rs121918043
GWAS Ctlg	rs121918043

Max Magnitude

5

aka c.1532A>T (p.Asp511Val)

23andMe name: i5002463

OMIM	173910
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121918043(T;T)
Alt	rs121918043(T;T)
Reference	Rs121918043(A;A)
Significance	Pathogenic
Disease	Polycystic kidney disease 2
Variation	info
Gene	PKD2
CLNDBN	Polycystic kidney disease 2
Reversed	0
HGVS	NC_000004.11:g.88968006A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014479.27,