rs398122884

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;ACAAT)	7	Loeys-Dietz Syndrome
(ACAAT;ACAAT)	0	common/normal
(TACAA;TACAA)	0	common in clinvar

Make rs398122884(-;-)

Make rs398122884(-;TACAA)

Reference

GRCh38 38.1/141

Chromosome

1

Position

218437431

Gene

TGFB2

is a	snp
is	mentioned by
dbSNP	rs398122884
dbSNP (classic)	rs398122884
ClinGen	rs398122884
ebi	rs398122884
HLI	rs398122884
Exac	rs398122884
Gnomad	rs398122884
Varsome	rs398122884
LitVar	rs398122884
Map	rs398122884
PheGenI	rs398122884
Biobank	rs398122884
1000 genomes	rs398122884
hgdp	rs398122884
ensembl	rs398122884
geneview	rs398122884
scholar	rs398122884
google	rs398122884
pharmgkb	rs398122884
gwascentral	rs398122884
openSNP	rs398122884
23andMe	rs398122884
SNPshot	rs398122884
SNPdbe	rs398122884
MSV3d	rs398122884
GWAS Ctlg	rs398122884

Merged from

Rs869312904

Max Magnitude

7

ClinVar
Risk	rs398122884(-;-) Rs398122884(ACAAT;ACAAT)
Alt	rs398122884(-;-) Rs398122884(ACAAT;ACAAT)
Reference	Rs398122884(TACAA;TACAA)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 4
Variation	info
Gene	TGFB2
CLNDBN	Loeys-Dietz syndrome 4
Reversed	0
HGVS	NC_000001.10:g.218610774_218610778delACAAT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210478.2,