rs104894721

Orientation

minus

Stabilized

minus

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

Make rs104894721(C;T)

Make rs104894721(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41342230

Gene

TGFB1

is a	snp
is	mentioned by
dbSNP	rs104894721
dbSNP (classic)	rs104894721
ClinGen	rs104894721
ebi	rs104894721
HLI	rs104894721
Exac	rs104894721
Gnomad	rs104894721
Varsome	rs104894721
LitVar	rs104894721
Map	rs104894721
PheGenI	rs104894721
Biobank	rs104894721
1000 genomes	rs104894721
hgdp	rs104894721
ensembl	rs104894721
geneview	rs104894721
scholar	rs104894721
google	rs104894721
pharmgkb	rs104894721
gwascentral	rs104894721
openSNP	rs104894721
23andMe	rs104894721
SNPshot	rs104894721
SNPdbe	rs104894721
MSV3d	rs104894721
GWAS Ctlg	rs104894721

Max Magnitude

0

OMIM	190180
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894721(T;T)
Alt	rs104894721(T;T)
Reference	Rs104894721(C;C)
Significance	Pathogenic
Disease	Diaphyseal dysplasia
Variation	info
Gene	TGFB1
CLNDBN	Diaphyseal dysplasia
Reversed	1
HGVS	NC_000019.9:g.41848135G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013357.17,