rs758051786

Orientation

plus

Stabilized

plus

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

Make rs758051786(-;C)

Make rs758051786(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

30088756

Gene

TBX6

is a	snp
is	mentioned by
dbSNP	rs758051786
dbSNP (classic)	rs758051786
ClinGen	rs758051786
ebi	rs758051786
HLI	rs758051786
Exac	rs758051786
Gnomad	rs758051786
Varsome	rs758051786
LitVar	rs758051786
Map	rs758051786
PheGenI	rs758051786
Biobank	rs758051786
1000 genomes	rs758051786
hgdp	rs758051786
ensembl	rs758051786
geneview	rs758051786
scholar	rs758051786
google	rs758051786
pharmgkb	rs758051786
gwascentral	rs758051786
openSNP	rs758051786
23andMe	rs758051786
SNPshot	rs758051786
SNPdbe	rs758051786
MSV3d	rs758051786
GWAS Ctlg	rs758051786

Max Magnitude

0

ClinVar
Risk	rs758051786(C;C)
Alt	rs758051786(C;C)
Reference	Rs758051786(-;-)
Significance	Pathogenic
Disease	Spondylocostal dysostosis 5
Variation	info
Gene	TBX6
CLNDBN	Spondylocostal dysostosis 5
Reversed	0
HGVS	NC_000016.9:g.30100078dupC
CLNSRC
CLNACC	RCV000235054.1,