rs606231278
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCAGT;GCAGT) | 0 | common in clinvar |
Make rs606231278(GCAGT;TCCTTCA) |
Make rs606231278(TCCTTCA;TCCTTCA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 43234829 |
Gene | TGM5 |
is a | snp |
is | mentioned by |
dbSNP | rs606231278 |
dbSNP (classic) | rs606231278 |
ClinGen | rs606231278 |
ebi | rs606231278 |
HLI | rs606231278 |
Exac | rs606231278 |
Gnomad | rs606231278 |
Varsome | rs606231278 |
LitVar | rs606231278 |
Map | rs606231278 |
PheGenI | rs606231278 |
Biobank | rs606231278 |
1000 genomes | rs606231278 |
hgdp | rs606231278 |
ensembl | rs606231278 |
geneview | rs606231278 |
scholar | rs606231278 |
rs606231278 | |
pharmgkb | rs606231278 |
gwascentral | rs606231278 |
openSNP | rs606231278 |
23andMe | rs606231278 |
SNPshot | rs606231278 |
SNPdbe | rs606231278 |
MSV3d | rs606231278 |
GWAS Ctlg | rs606231278 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231278(TCCTTCA;TCCTTCA) |
Alt | rs606231278(TCCTTCA;TCCTTCA) |
Reference | Rs606231278(GCAGT;GCAGT) |
Significance | Pathogenic |
Disease | Peeling skin syndrome |
Variation | info |
Gene | TGM5 |
CLNDBN | Peeling skin syndrome, acral type |
Reversed | 1 |
HGVS | NC_000015.9:g.43527027_43527031delACTGCinsTGAAGGA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144915.5, |