rs104894722

Orientation

minus

Stabilized

minus

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

Make rs104894722(C;C)

Make rs104894722(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41342215

Gene

TGFB1

is a	snp
is	mentioned by
dbSNP	rs104894722
dbSNP (classic)	rs104894722
ClinGen	rs104894722
ebi	rs104894722
HLI	rs104894722
Exac	rs104894722
Gnomad	rs104894722
Varsome	rs104894722
LitVar	rs104894722
Map	rs104894722
PheGenI	rs104894722
Biobank	rs104894722
1000 genomes	rs104894722
hgdp	rs104894722
ensembl	rs104894722
geneview	rs104894722
scholar	rs104894722
google	rs104894722
pharmgkb	rs104894722
gwascentral	rs104894722
openSNP	rs104894722
23andMe	rs104894722
SNPshot	rs104894722
SNPdbe	rs104894722
MSV3d	rs104894722
GWAS Ctlg	rs104894722

Merged from

Rs28934268

Max Magnitude

0

OMIM	190180
Desc
Variant	0005
Related	also

OMIM	190180
Desc
Variant	0006
Related	also

ClinVar
Risk	rs104894722(A;A) rs104894722(C;C) rs104894722(G;G)
Alt	rs104894722(A;A) rs104894722(C;C) rs104894722(G;G)
Reference	Rs104894722(T;T)
Significance	Pathogenic
Disease	Diaphyseal dysplasia
Variation	info
Gene	TGFB1
CLNDBN	Diaphyseal dysplasia
Reversed	1
HGVS	NC_000019.9:g.41848120A>C; NC_000019.9:g.41848120A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013356.25, RCV000013359.25,