rs587777113

Orientation

plus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(T;T)	0	common in clinvar

Make rs587777113(A;T)

Reference

GRCh38 38.1/142

Chromosome

16

Position

30086225

Gene

TBX6

is a	snp
is	mentioned by
dbSNP	rs587777113
dbSNP (classic)	rs587777113
ClinGen	rs587777113
ebi	rs587777113
HLI	rs587777113
Exac	rs587777113
Gnomad	rs587777113
Varsome	rs587777113
LitVar	rs587777113
Map	rs587777113
PheGenI	rs587777113
Biobank	rs587777113
1000 genomes	rs587777113
hgdp	rs587777113
ensembl	rs587777113
geneview	rs587777113
scholar	rs587777113
google	rs587777113
pharmgkb	rs587777113
gwascentral	rs587777113
openSNP	rs587777113
23andMe	rs587777113
SNPshot	rs587777113
SNPdbe	rs587777113
MSV3d	rs587777113
GWAS Ctlg	rs587777113

Max Magnitude

0

ClinVar
Risk	Rs587777113(T;T)
Alt	Rs587777113(T;T)
Reference	Rs587777113(A;A)
Significance	Pathogenic
Disease	Spondylocostal dysostosis 5
Variation	info
Gene	TBX6
CLNDBN	Spondylocostal dysostosis 5
Reversed	1
HGVS	NC_000016.9:g.30097546T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087033.4,