rs377546036

Orientation

plus

Stabilized

plus

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

Make rs377546036(C;T)

Make rs377546036(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

78995177

Gene

CANT1

is a	snp
is	mentioned by
dbSNP	rs377546036
dbSNP (classic)	rs377546036
ClinGen	rs377546036
ebi	rs377546036
HLI	rs377546036
Exac	rs377546036
Gnomad	rs377546036
Varsome	rs377546036
LitVar	rs377546036
Map	rs377546036
PheGenI	rs377546036
Biobank	rs377546036
1000 genomes	rs377546036
hgdp	rs377546036
ensembl	rs377546036
geneview	rs377546036
scholar	rs377546036
google	rs377546036
pharmgkb	rs377546036
gwascentral	rs377546036
openSNP	rs377546036
23andMe	rs377546036
SNPshot	rs377546036
SNPdbe	rs377546036
MSV3d	rs377546036
GWAS Ctlg	rs377546036

Max Magnitude

0

ClinVar
Risk	rs377546036(T;T)
Alt	rs377546036(T;T)
Reference	Rs377546036(C;C)
Significance	Pathogenic
Disease	Desbuquois dysplasia 1
Variation	info
Gene	CANT1
CLNDBN	Desbuquois dysplasia 1
Reversed	0
HGVS	NC_000017.10:g.76991259C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024010.5,