rs398122984

Orientation

minus

Stabilized

minus

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

Make rs398122984(A;A)

Make rs398122984(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

75959200

Gene

TGFB3

is a	snp
is	mentioned by
dbSNP	rs398122984
dbSNP (classic)	rs398122984
ClinGen	rs398122984
ebi	rs398122984
HLI	rs398122984
Exac	rs398122984
Gnomad	rs398122984
Varsome	rs398122984
LitVar	rs398122984
Map	rs398122984
PheGenI	rs398122984
Biobank	rs398122984
1000 genomes	rs398122984
hgdp	rs398122984
ensembl	rs398122984
geneview	rs398122984
scholar	rs398122984
google	rs398122984
pharmgkb	rs398122984
gwascentral	rs398122984
openSNP	rs398122984
23andMe	rs398122984
SNPshot	rs398122984
SNPdbe	rs398122984
MSV3d	rs398122984
GWAS Ctlg	rs398122984

Max Magnitude

0

ClinVar
Risk	rs398122984(A;A)
Alt	rs398122984(A;A)
Reference	Rs398122984(G;G)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 5
Variation	info
Gene	TGFB3
CLNDBN	Loeys-Dietz syndrome 5
Reversed	1
HGVS	NC_000014.8:g.76425543C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000077765.6,