rs267607193

Orientation

plus

Stabilized

plus

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

Make rs267607193(C;C)

Make rs267607193(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

129440351

Gene	IFT122, MBD4

is a	snp
is	mentioned by
dbSNP	rs267607193
dbSNP (classic)	rs267607193
ClinGen	rs267607193
ebi	rs267607193
HLI	rs267607193
Exac	rs267607193
Gnomad	rs267607193
Varsome	rs267607193
LitVar	rs267607193
Map	rs267607193
PheGenI	rs267607193
Biobank	rs267607193
1000 genomes	rs267607193
hgdp	rs267607193
ensembl	rs267607193
geneview	rs267607193
scholar	rs267607193
google	rs267607193
pharmgkb	rs267607193
gwascentral	rs267607193
openSNP	rs267607193
23andMe	rs267607193
SNPshot	rs267607193
SNPdbe	rs267607193
MSV3d	rs267607193
GWAS Ctlg	rs267607193

Max Magnitude

0

ClinVar
Risk	rs267607193(C;C)
Alt	rs267607193(C;C)
Reference	Rs267607193(G;G)
Significance	Pathogenic
Disease	Cranioectodermal dysplasia 1
Variation	info
Gene	IFT122 MBD4
CLNDBN	Cranioectodermal dysplasia 1
Reversed	0
HGVS	NC_000003.11:g.129159194G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004901.4,