rs104894382

Orientation

minus

Stabilized

minus

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

Make rs104894382(C;T)

Make rs104894382(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

114385522

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs104894382
dbSNP (classic)	rs104894382
ClinGen	rs104894382
ebi	rs104894382
HLI	rs104894382
Exac	rs104894382
Gnomad	rs104894382
Varsome	rs104894382
LitVar	rs104894382
Map	rs104894382
PheGenI	rs104894382
Biobank	rs104894382
1000 genomes	rs104894382
hgdp	rs104894382
ensembl	rs104894382
geneview	rs104894382
scholar	rs104894382
google	rs104894382
pharmgkb	rs104894382
gwascentral	rs104894382
openSNP	rs104894382
23andMe	rs104894382
SNPshot	rs104894382
SNPdbe	rs104894382
MSV3d	rs104894382
GWAS Ctlg	rs104894382

Max Magnitude

0

OMIM	601620
Desc
Variant	0005
Related	also

ClinVar
Risk	rs104894382(T;T)
Alt	rs104894382(T;T)
Reference	Rs104894382(C;C)
Significance	Pathogenic
Disease	Holt-Oram syndrome Heart Aortic valve disease 2
Variation	info
Gene	TBX5
CLNDBN	Holt-Oram syndrome Heart, malformation of Aortic valve disease 2
Reversed	1
HGVS	NC_000012.11:g.114823327G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008459.3, RCV000128627.1, RCV000473181.1,