rs387907193

Orientation

minus

Stabilized

minus

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

Make rs387907193(A;G)

Make rs387907193(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

1587275

Gene	IFT140, LOC105371046

is a	snp
is	mentioned by
dbSNP	rs387907193
dbSNP (classic)	rs387907193
ClinGen	rs387907193
ebi	rs387907193
HLI	rs387907193
Exac	rs387907193
Gnomad	rs387907193
Varsome	rs387907193
LitVar	rs387907193
Map	rs387907193
PheGenI	rs387907193
Biobank	rs387907193
1000 genomes	rs387907193
hgdp	rs387907193
ensembl	rs387907193
geneview	rs387907193
scholar	rs387907193
google	rs387907193
pharmgkb	rs387907193
gwascentral	rs387907193
openSNP	rs387907193
23andMe	rs387907193
SNPshot	rs387907193
SNPdbe	rs387907193
MSV3d	rs387907193
GWAS Ctlg	rs387907193

Max Magnitude

0

ClinVar
Risk	rs387907193(G;G)
Alt	rs387907193(G;G)
Reference	Rs387907193(A;A)
Significance	Pathogenic
Disease	Renal dysplasia
Variation	info
Gene	LOC105371046 IFT140
CLNDBN	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Reversed	1
HGVS	NC_000016.9:g.1637276T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024361.5,