rs104894379

Orientation

minus

Stabilized

minus

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

Make rs104894379(A;A)

Make rs104894379(A;C)

Reference

GRCh38 38.1/141

Chromosome

12

Position

114398675

Gene

TBX5

is a	snp
is	mentioned by
dbSNP	rs104894379
dbSNP (classic)	rs104894379
ClinGen	rs104894379
ebi	rs104894379
HLI	rs104894379
Exac	rs104894379
Gnomad	rs104894379
Varsome	rs104894379
LitVar	rs104894379
Map	rs104894379
PheGenI	rs104894379
Biobank	rs104894379
1000 genomes	rs104894379
hgdp	rs104894379
ensembl	rs104894379
geneview	rs104894379
scholar	rs104894379
google	rs104894379
pharmgkb	rs104894379
gwascentral	rs104894379
openSNP	rs104894379
23andMe	rs104894379
SNPshot	rs104894379
SNPdbe	rs104894379
MSV3d	rs104894379
GWAS Ctlg	rs104894379

Max Magnitude

0

OMIM	601620
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894379(A;A) rs104894379(T;T)
Alt	rs104894379(A;A) rs104894379(T;T)
Reference	Rs104894379(C;C)
Significance	Pathogenic
Disease	Holt-Oram syndrome
Variation	info
Gene	TBX5
CLNDBN	Holt-Oram syndrome
Reversed	1
HGVS	NC_000012.11:g.114836480G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008463.3,