rs201620629

Orientation

plus

Stabilized

plus

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

Make rs201620629(A;A)

Make rs201620629(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

30086847

Gene

TBX6

is a	snp
is	mentioned by
dbSNP	rs201620629
dbSNP (classic)	rs201620629
ClinGen	rs201620629
ebi	rs201620629
HLI	rs201620629
Exac	rs201620629
Gnomad	rs201620629
Varsome	rs201620629
LitVar	rs201620629
Map	rs201620629
PheGenI	rs201620629
Biobank	rs201620629
1000 genomes	rs201620629
hgdp	rs201620629
ensembl	rs201620629
geneview	rs201620629
scholar	rs201620629
google	rs201620629
pharmgkb	rs201620629
gwascentral	rs201620629
openSNP	rs201620629
23andMe	rs201620629
SNPshot	rs201620629
SNPdbe	rs201620629
MSV3d	rs201620629
GWAS Ctlg	rs201620629

Max Magnitude

0

ClinVar
Risk	rs201620629(A;A) rs201620629(C;C)
Alt	rs201620629(A;A) rs201620629(C;C)
Reference	Rs201620629(G;G)
Significance	Pathogenic
Disease	Spondylocostal dysostosis 5
Variation	info
Gene	TBX6
CLNDBN	Spondylocostal dysostosis 5
Reversed	0
HGVS	NC_000016.9:g.30098168G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000167862.3,