rs193922664

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	7	Loeys-Dietz Syndrome
(T;T)	0	common in clinvar

Make rs193922664(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

30691435

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs193922664
dbSNP (classic)	rs193922664
ClinGen	rs193922664
ebi	rs193922664
HLI	rs193922664
Exac	rs193922664
Gnomad	rs193922664
Varsome	rs193922664
LitVar	rs193922664
Map	rs193922664
PheGenI	rs193922664
Biobank	rs193922664
1000 genomes	rs193922664
hgdp	rs193922664
ensembl	rs193922664
geneview	rs193922664
scholar	rs193922664
google	rs193922664
pharmgkb	rs193922664
gwascentral	rs193922664
openSNP	rs193922664
23andMe	rs193922664
SNPshot	rs193922664
SNPdbe	rs193922664
MSV3d	rs193922664
GWAS Ctlg	rs193922664

Max Magnitude

7

ClinVar
Risk	rs193922664(C;C)
Alt	rs193922664(C;C)
Reference	Rs193922664(T;T)
Significance	Probable-Pathogenic
Disease	Loeys-Dietz syndrome
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome
Reversed	0
HGVS	NC_000003.11:g.30732927T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000030548.1,