rs587776951

Orientation

plus

Stabilized

minus

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

Make rs587776951(C;T)

Make rs587776951(T;T)

Reference

GRCh38 38.1/142

Chromosome

17

Position

79009663

Gene

CANT1

is a	snp
is	mentioned by
dbSNP	rs587776951
dbSNP (classic)	rs587776951
ClinGen	rs587776951
ebi	rs587776951
HLI	rs587776951
Exac	rs587776951
Gnomad	rs587776951
Varsome	rs587776951
LitVar	rs587776951
Map	rs587776951
PheGenI	rs587776951
Biobank	rs587776951
1000 genomes	rs587776951
hgdp	rs587776951
ensembl	rs587776951
geneview	rs587776951
scholar	rs587776951
google	rs587776951
pharmgkb	rs587776951
gwascentral	rs587776951
openSNP	rs587776951
23andMe	rs587776951
SNPshot	rs587776951
SNPdbe	rs587776951
MSV3d	rs587776951
GWAS Ctlg	rs587776951

Max Magnitude

0

ClinVar
Risk	Rs587776951(C;C) rs587776951(T;T)
Alt	Rs587776951(C;C) rs587776951(T;T)
Reference	Rs587776951(G;G)
Significance	Pathogenic
Disease	Desbuquois dysplasia 1
Variation	info
Gene	CANT1
CLNDBN	Desbuquois dysplasia 1
Reversed	1
HGVS	NC_000017.10:g.77005745C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034325.5,