rs727502793
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs727502793(G;T) |
Make rs727502793(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 18 |
Position | 79973765 |
Gene | TXNL4A |
is a | snp |
is | mentioned by |
dbSNP | rs727502793 |
dbSNP (classic) | rs727502793 |
ClinGen | rs727502793 |
ebi | rs727502793 |
HLI | rs727502793 |
Exac | rs727502793 |
Gnomad | rs727502793 |
Varsome | rs727502793 |
LitVar | rs727502793 |
Map | rs727502793 |
PheGenI | rs727502793 |
Biobank | rs727502793 |
1000 genomes | rs727502793 |
hgdp | rs727502793 |
ensembl | rs727502793 |
geneview | rs727502793 |
scholar | rs727502793 |
rs727502793 | |
pharmgkb | rs727502793 |
gwascentral | rs727502793 |
openSNP | rs727502793 |
23andMe | rs727502793 |
SNPshot | rs727502793 |
SNPdbe | rs727502793 |
MSV3d | rs727502793 |
GWAS Ctlg | rs727502793 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727502793(A;A) rs727502793(T;T) |
Alt | rs727502793(A;A) rs727502793(T;T) |
Reference | Rs727502793(G;G) |
Significance | Pathogenic |
Disease | Burn-McKeown syndrome |
Variation | info |
Gene | TXNL4A |
CLNDBN | Burn-McKeown syndrome |
Reversed | 1 |
HGVS | NC_000018.9:g.77733765C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149584.5, RCV000170535.1, |