rs28939693
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(T;T) | 0 |
Make rs28939693(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 18 |
Position | 3457441 |
Gene | TGIF1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939693 |
dbSNP (classic) | rs28939693 |
ClinGen | rs28939693 |
ebi | rs28939693 |
HLI | rs28939693 |
Exac | rs28939693 |
Gnomad | rs28939693 |
Varsome | rs28939693 |
LitVar | rs28939693 |
Map | rs28939693 |
PheGenI | rs28939693 |
Biobank | rs28939693 |
1000 genomes | rs28939693 |
hgdp | rs28939693 |
ensembl | rs28939693 |
geneview | rs28939693 |
scholar | rs28939693 |
rs28939693 | |
pharmgkb | rs28939693 |
gwascentral | rs28939693 |
openSNP | rs28939693 |
23andMe | rs28939693 |
SNPshot | rs28939693 |
SNPdbe | rs28939693 |
MSV3d | rs28939693 |
GWAS Ctlg | rs28939693 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939693(G;G) Rs28939693(T;T) |
Alt | rs28939693(G;G) Rs28939693(T;T) |
Reference | Rs28939693(A;A) |
Significance | Pathogenic |
Disease | Holoprosencephaly 4 not specified |
Variation | info |
Gene | TGIF1 |
CLNDBN | Holoprosencephaly 4 not specified |
Reversed | 0 |
HGVS | NC_000018.9:g.3457439A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007399.3, RCV000439563.1, |