rs115677373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs115677373(A;G) |
Make rs115677373(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 43252858 |
Gene | TGM5 |
is a | snp |
is | mentioned by |
dbSNP | rs115677373 |
dbSNP (classic) | rs115677373 |
ClinGen | rs115677373 |
ebi | rs115677373 |
HLI | rs115677373 |
Exac | rs115677373 |
Gnomad | rs115677373 |
Varsome | rs115677373 |
LitVar | rs115677373 |
Map | rs115677373 |
PheGenI | rs115677373 |
Biobank | rs115677373 |
1000 genomes | rs115677373 |
hgdp | rs115677373 |
ensembl | rs115677373 |
geneview | rs115677373 |
scholar | rs115677373 |
rs115677373 | |
pharmgkb | rs115677373 |
gwascentral | rs115677373 |
openSNP | rs115677373 |
23andMe | rs115677373 |
SNPshot | rs115677373 |
SNPdbe | rs115677373 |
MSV3d | rs115677373 |
GWAS Ctlg | rs115677373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs115677373(G;G) |
Alt | rs115677373(G;G) |
Reference | Rs115677373(A;A) |
Significance | Pathogenic |
Disease | Peeling skin syndrome |
Variation | info |
Gene | TGM5 |
CLNDBN | Peeling skin syndrome, acral type |
Reversed | 0 |
HGVS | NC_000015.9:g.43545056A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144912.5, |