rs104894719

Orientation

minus

Stabilized

minus

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

Make rs104894719(C;C)

Make rs104894719(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41342209

Gene

TGFB1

is a	snp
is	mentioned by
dbSNP	rs104894719
dbSNP (classic)	rs104894719
ClinGen	rs104894719
ebi	rs104894719
HLI	rs104894719
Exac	rs104894719
Gnomad	rs104894719
Varsome	rs104894719
LitVar	rs104894719
Map	rs104894719
PheGenI	rs104894719
Biobank	rs104894719
1000 genomes	rs104894719
hgdp	rs104894719
ensembl	rs104894719
geneview	rs104894719
scholar	rs104894719
google	rs104894719
pharmgkb	rs104894719
gwascentral	rs104894719
openSNP	rs104894719
23andMe	rs104894719
SNPshot	rs104894719
SNPdbe	rs104894719
MSV3d	rs104894719
GWAS Ctlg	rs104894719

Max Magnitude

0

OMIM	190180
Desc
Variant	0001
Related	also

ClinVar
Risk	rs104894719(C;C)
Alt	rs104894719(C;C)
Reference	Rs104894719(T;T)
Significance	Pathogenic
Disease	Diaphyseal dysplasia
Variation	info
Gene	TGFB1
CLNDBN	Diaphyseal dysplasia
Reversed	1
HGVS	NC_000019.9:g.41848114A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013354.24,