rs104894383

Orientation

minus

Stabilized

minus

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

Make rs104894383(A;A)

Make rs104894383(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

114403754

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs104894383
dbSNP (classic)	rs104894383
ClinGen	rs104894383
ebi	rs104894383
HLI	rs104894383
Exac	rs104894383
Gnomad	rs104894383
Varsome	rs104894383
LitVar	rs104894383
Map	rs104894383
PheGenI	rs104894383
Biobank	rs104894383
1000 genomes	rs104894383
hgdp	rs104894383
ensembl	rs104894383
geneview	rs104894383
scholar	rs104894383
google	rs104894383
pharmgkb	rs104894383
gwascentral	rs104894383
openSNP	rs104894383
23andMe	rs104894383
SNPshot	rs104894383
SNPdbe	rs104894383
MSV3d	rs104894383
GWAS Ctlg	rs104894383

Max Magnitude

0

OMIM	601620
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894383(A;A)
Alt	rs104894383(A;A)
Reference	Rs104894383(C;C)
Significance	Pathogenic
Disease	Holt-Oram syndrome
Variation	info
Gene	TBX5 LOC101928456
CLNDBN	Holt-Oram syndrome
Reversed	1
HGVS	NC_000012.11:g.114841559G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008461.3,