rs104894377

Orientation

minus

Stabilized

minus

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

Make rs104894377(G;T)

Make rs104894377(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

114401863

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs104894377
dbSNP (classic)	rs104894377
ClinGen	rs104894377
ebi	rs104894377
HLI	rs104894377
Exac	rs104894377
Gnomad	rs104894377
Varsome	rs104894377
LitVar	rs104894377
Map	rs104894377
PheGenI	rs104894377
Biobank	rs104894377
1000 genomes	rs104894377
hgdp	rs104894377
ensembl	rs104894377
geneview	rs104894377
scholar	rs104894377
google	rs104894377
pharmgkb	rs104894377
gwascentral	rs104894377
openSNP	rs104894377
23andMe	rs104894377
SNPshot	rs104894377
SNPdbe	rs104894377
MSV3d	rs104894377
GWAS Ctlg	rs104894377

Max Magnitude

0

OMIM	601620
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104894377(T;T)
Alt	rs104894377(T;T)
Reference	Rs104894377(G;G)
Significance	Pathogenic
Disease	Holt-Oram syndrome
Variation	info
Gene	TBX5
CLNDBN	Holt-Oram syndrome
Reversed	1
HGVS	NC_000012.11:g.114839668C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008456.4,