rs794727473

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs794727473(C;T)

Make rs794727473(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

1519930

Gene

IFT140

is a	snp
is	mentioned by
dbSNP	rs794727473
dbSNP (classic)	rs794727473
ClinGen	rs794727473
ebi	rs794727473
HLI	rs794727473
Exac	rs794727473
Gnomad	rs794727473
Varsome	rs794727473
LitVar	rs794727473
Map	rs794727473
PheGenI	rs794727473
Biobank	rs794727473
1000 genomes	rs794727473
hgdp	rs794727473
ensembl	rs794727473
geneview	rs794727473
scholar	rs794727473
google	rs794727473
pharmgkb	rs794727473
gwascentral	rs794727473
openSNP	rs794727473
23andMe	rs794727473
SNPshot	rs794727473
SNPdbe	rs794727473
MSV3d	rs794727473
GWAS Ctlg	rs794727473

Max Magnitude

0

ClinVar
Risk	rs794727473(T;T)
Alt	rs794727473(T;T)
Reference	Rs794727473(C;C)
Significance	Pathogenic
Disease	Renal dysplasia
Variation	info
Gene	IFT140
CLNDBN	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Reversed	1
HGVS	NC_000016.9:g.1569931G>A
CLNSRC
CLNACC	RCV000176940.1,