rs104894378

Orientation

minus

Stabilized

minus

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

Make rs104894378(A;A)

Make rs104894378(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

114385521

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs104894378
dbSNP (classic)	rs104894378
ClinGen	rs104894378
ebi	rs104894378
HLI	rs104894378
Exac	rs104894378
Gnomad	rs104894378
Varsome	rs104894378
LitVar	rs104894378
Map	rs104894378
PheGenI	rs104894378
Biobank	rs104894378
1000 genomes	rs104894378
hgdp	rs104894378
ensembl	rs104894378
geneview	rs104894378
scholar	rs104894378
google	rs104894378
pharmgkb	rs104894378
gwascentral	rs104894378
openSNP	rs104894378
23andMe	rs104894378
SNPshot	rs104894378
SNPdbe	rs104894378
MSV3d	rs104894378
GWAS Ctlg	rs104894378

Max Magnitude

0

OMIM	601620
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894378(A;A) rs104894378(C;C)
Alt	rs104894378(A;A) rs104894378(C;C)
Reference	Rs104894378(G;G)
Significance	Other
Disease	not provided Holt-Oram syndrome Aortic valve disease 2
Variation	info
Gene	TBX5
CLNDBN	not provided Holt-Oram syndrome Aortic valve disease 2
Reversed	1
HGVS	NC_000012.11:g.114823326C>G; NC_000012.11:g.114823326C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000413877.1, RCV000008457.4, RCV000196777.3, RCV000474989.1,