rs760759052
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs760759052(A;A) |
Make rs760759052(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 218346998 |
Gene | TGFB2, TGFB2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs760759052 |
dbSNP (classic) | rs760759052 |
ClinGen | rs760759052 |
ebi | rs760759052 |
HLI | rs760759052 |
Exac | rs760759052 |
Gnomad | rs760759052 |
Varsome | rs760759052 |
LitVar | rs760759052 |
Map | rs760759052 |
PheGenI | rs760759052 |
Biobank | rs760759052 |
1000 genomes | rs760759052 |
hgdp | rs760759052 |
ensembl | rs760759052 |
geneview | rs760759052 |
scholar | rs760759052 |
rs760759052 | |
pharmgkb | rs760759052 |
gwascentral | rs760759052 |
openSNP | rs760759052 |
23andMe | rs760759052 |
SNPshot | rs760759052 |
SNPdbe | rs760759052 |
MSV3d | rs760759052 |
GWAS Ctlg | rs760759052 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs760759052(A;A) rs760759052(T;T) |
Alt | rs760759052(A;A) rs760759052(T;T) |
Reference | Rs760759052(C;C) |
Significance | Pathogenic |
Disease | Loeys-Dietz syndrome 4 not specified |
Variation | info |
Gene | TGFB2 TGFB2-AS1 |
CLNDBN | Loeys-Dietz syndrome 4 not specified |
Reversed | 0 |
HGVS | NC_000001.10:g.218520340C>A; NC_000001.10:g.218520340C>T |
CLNSRC | |
CLNACC | RCV000210467.1, RCV000428083.1, |