rs104894381

Orientation

minus

Stabilized

minus

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

Make rs104894381(A;A)

Make rs104894381(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

114401830

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs104894381
dbSNP (classic)	rs104894381
ClinGen	rs104894381
ebi	rs104894381
HLI	rs104894381
Exac	rs104894381
Gnomad	rs104894381
Varsome	rs104894381
LitVar	rs104894381
Map	rs104894381
PheGenI	rs104894381
Biobank	rs104894381
1000 genomes	rs104894381
hgdp	rs104894381
ensembl	rs104894381
geneview	rs104894381
scholar	rs104894381
google	rs104894381
pharmgkb	rs104894381
gwascentral	rs104894381
openSNP	rs104894381
23andMe	rs104894381
SNPshot	rs104894381
SNPdbe	rs104894381
MSV3d	rs104894381
GWAS Ctlg	rs104894381

Max Magnitude

0

OMIM	601620
Desc
Variant	0004
Related	also

ClinVar
Risk	rs104894381(A;A)
Alt	rs104894381(A;A)
Reference	Rs104894381(G;G)
Significance	Pathogenic
Disease	Holt-Oram syndrome
Variation	info
Gene	TBX5
CLNDBN	Holt-Oram syndrome
Reversed	1
HGVS	NC_000012.11:g.114839635C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008458.3,