rs786205567

Orientation

plus

Stabilized

plus

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

Make rs786205567(C;C)

Make rs786205567(C;T)

Reference

GRCh38.p2 38.2/146

Chromosome

3

Position

129500070

Gene

IFT122

is a	snp
is	mentioned by
dbSNP	rs786205567
dbSNP (classic)	rs786205567
ClinGen	rs786205567
ebi	rs786205567
HLI	rs786205567
Exac	rs786205567
Gnomad	rs786205567
Varsome	rs786205567
LitVar	rs786205567
Map	rs786205567
PheGenI	rs786205567
Biobank	rs786205567
1000 genomes	rs786205567
hgdp	rs786205567
ensembl	rs786205567
geneview	rs786205567
scholar	rs786205567
google	rs786205567
pharmgkb	rs786205567
gwascentral	rs786205567
openSNP	rs786205567
23andMe	rs786205567
SNPshot	rs786205567
SNPdbe	rs786205567
MSV3d	rs786205567
GWAS Ctlg	rs786205567

Max Magnitude

0

ClinVar
Risk	rs786205567(C;C)
Alt	rs786205567(C;C)
Reference	Rs786205567(T;T)
Significance	Pathogenic
Disease	not provided Cranioectodermal dysplasia
Variation	info
Gene	IFT122
CLNDBN	not provided Cranioectodermal dysplasia
Reversed	0
HGVS	NC_000003.11:g.129218913T>C
CLNSRC
CLNACC	RCV000171371.1, RCV000256473.1,