rs879255643

Orientation

minus

Stabilized

minus

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

Make rs879255643(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

11

Position

62626633

Gene

GANAB

is a	snp
is	mentioned by
dbSNP	rs879255643
dbSNP (classic)	rs879255643
ClinGen	rs879255643
ebi	rs879255643
HLI	rs879255643
Exac	rs879255643
Gnomad	rs879255643
Varsome	rs879255643
LitVar	rs879255643
Map	rs879255643
PheGenI	rs879255643
Biobank	rs879255643
1000 genomes	rs879255643
hgdp	rs879255643
ensembl	rs879255643
geneview	rs879255643
scholar	rs879255643
google	rs879255643
pharmgkb	rs879255643
gwascentral	rs879255643
openSNP	rs879255643
23andMe	rs879255643
SNPshot	rs879255643
SNPdbe	rs879255643
MSV3d	rs879255643
GWAS Ctlg	rs879255643

Max Magnitude

5

aka c.2449C>T (p.Arg817Trp)

ClinVar
Risk	rs879255643(T;T)
Alt	rs879255643(T;T)
Reference	Rs879255643(C;C)
Significance	Pathogenic
Disease	Polycystic kidney disease 3
Variation	info
Gene	GANAB
CLNDBN	Polycystic kidney disease 3
Reversed	1
HGVS	NC_000011.9:g.62394105G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000239561.1,