rs143601447
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs143601447(A;G) |
Make rs143601447(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 15 |
Position | 43260468 |
Gene | TGM5 |
is a | snp |
is | mentioned by |
dbSNP | rs143601447 |
dbSNP (classic) | rs143601447 |
ClinGen | rs143601447 |
ebi | rs143601447 |
HLI | rs143601447 |
Exac | rs143601447 |
Gnomad | rs143601447 |
Varsome | rs143601447 |
LitVar | rs143601447 |
Map | rs143601447 |
PheGenI | rs143601447 |
Biobank | rs143601447 |
1000 genomes | rs143601447 |
hgdp | rs143601447 |
ensembl | rs143601447 |
geneview | rs143601447 |
scholar | rs143601447 |
rs143601447 | |
pharmgkb | rs143601447 |
gwascentral | rs143601447 |
openSNP | rs143601447 |
23andMe | rs143601447 |
SNPshot | rs143601447 |
SNPdbe | rs143601447 |
MSV3d | rs143601447 |
GWAS Ctlg | rs143601447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs143601447(G;G) |
Alt | rs143601447(G;G) |
Reference | Rs143601447(A;A) |
Significance | Pathogenic |
Disease | Peeling skin syndrome not provided |
Variation | info |
Gene | TGM5 |
CLNDBN | Peeling skin syndrome, acral type not provided |
Reversed | 0 |
HGVS | NC_000015.9:g.43552666A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144913.5, RCV000442177.1, |