rs786204040

Orientation

minus

Stabilized

minus

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

Make rs786204040(-;C)

Make rs786204040(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

16

Position

30090844

Gene

TBX6

is a	snp
is	mentioned by
dbSNP	rs786204040
dbSNP (classic)	rs786204040
ClinGen	rs786204040
ebi	rs786204040
HLI	rs786204040
Exac	rs786204040
Gnomad	rs786204040
Varsome	rs786204040
LitVar	rs786204040
Map	rs786204040
PheGenI	rs786204040
Biobank	rs786204040
1000 genomes	rs786204040
hgdp	rs786204040
ensembl	rs786204040
geneview	rs786204040
scholar	rs786204040
google	rs786204040
pharmgkb	rs786204040
gwascentral	rs786204040
openSNP	rs786204040
23andMe	rs786204040
SNPshot	rs786204040
SNPdbe	rs786204040
MSV3d	rs786204040
GWAS Ctlg	rs786204040

Max Magnitude

0

ClinVar
Risk	rs786204040(C;C)
Alt	rs786204040(C;C)
Reference	Rs786204040(-;-)
Significance	Pathogenic
Disease	Spondylocostal dysostosis 5
Variation	info
Gene	TBX6
CLNDBN	Spondylocostal dysostosis 5
Reversed	1
HGVS	NC_000016.9:g.30102166dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167865.3,