rs267606700

Orientation

minus

Stabilized

minus

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

Make rs267606700(C;T)

Make rs267606700(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

78993860

Gene

CANT1

is a	snp
is	mentioned by
dbSNP	rs267606700
dbSNP (old)	rs267606700
ClinGen	rs267606700
ebi	rs267606700
HLI	rs267606700
Exac	rs267606700
Gnomad	rs267606700
Varsome	rs267606700
Map	rs267606700
PheGenI	rs267606700
Biobank	rs267606700
1000 genomes	rs267606700
hgdp	rs267606700
ensembl	rs267606700
gopubmed	rs267606700
geneview	rs267606700
scholar	rs267606700
google	rs267606700
pharmgkb	rs267606700
gwascentral	rs267606700
openSNP	rs267606700
23andMe	rs267606700
23andMe all	rs267606700
SNP Nexus
SNPshot	rs267606700
SNPdbe	rs267606700
MSV3d	rs267606700
GWAS Ctlg	rs267606700

Max Magnitude

0

ClinVar
Risk	rs267606700(T;T)
Alt	rs267606700(T;T)
Reference	Rs267606700(C;C)
Significance	Pathogenic
Disease	Desbuquois dysplasia 1
Variation	info
Gene	CANT1
CLNDBN	Desbuquois dysplasia 1
Reversed	1
HGVS	NC_000017.10:g.76989942G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000307.4,