rs878853750

Orientation

minus

Stabilized

minus

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

Make rs878853750(-;-)

Make rs878853750(-;A)

Reference

GRCh38.p2 38.2/147

Chromosome

12

Position

114366189

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs878853750
dbSNP (classic)	rs878853750
ClinGen	rs878853750
ebi	rs878853750
HLI	rs878853750
Exac	rs878853750
Gnomad	rs878853750
Varsome	rs878853750
LitVar	rs878853750
Map	rs878853750
PheGenI	rs878853750
Biobank	rs878853750
1000 genomes	rs878853750
hgdp	rs878853750
ensembl	rs878853750
geneview	rs878853750
scholar	rs878853750
google	rs878853750
pharmgkb	rs878853750
gwascentral	rs878853750
openSNP	rs878853750
23andMe	rs878853750
SNPshot	rs878853750
SNPdbe	rs878853750
MSV3d	rs878853750
GWAS Ctlg	rs878853750

Max Magnitude

0

ClinVar
Risk	rs878853750(-;-)
Alt	rs878853750(-;-)
Reference	Rs878853750(A;A)
Significance	Pathogenic
Disease	Aortic valve disease 2
Variation	info
Gene	TBX5
CLNDBN	Aortic valve disease 2
Reversed	1
HGVS	NC_000012.11:g.114803994delT
CLNSRC
CLNACC	RCV000227368.1,