rs398122900
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TCCAT;TCCAT) | 0 | common in clinvar |
(TTCCA;TTCCA) | 0 | common/normal |
Make rs398122900(-;-) |
Make rs398122900(-;TTCCA) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 24258380 |
Gene | TGM1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122900 |
dbSNP (classic) | rs398122900 |
ClinGen | rs398122900 |
ebi | rs398122900 |
HLI | rs398122900 |
Exac | rs398122900 |
Gnomad | rs398122900 |
Varsome | rs398122900 |
LitVar | rs398122900 |
Map | rs398122900 |
PheGenI | rs398122900 |
Biobank | rs398122900 |
1000 genomes | rs398122900 |
hgdp | rs398122900 |
ensembl | rs398122900 |
geneview | rs398122900 |
scholar | rs398122900 |
rs398122900 | |
pharmgkb | rs398122900 |
gwascentral | rs398122900 |
openSNP | rs398122900 |
23andMe | rs398122900 |
SNPshot | rs398122900 |
SNPdbe | rs398122900 |
MSV3d | rs398122900 |
GWAS Ctlg | rs398122900 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122900(-;-) |
Alt | rs398122900(-;-) |
Reference | Rs398122900(TCCAT;TCCAT) |
Significance | Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 1 |
Variation | info |
Gene | TGM1 |
CLNDBN | Autosomal recessive congenital ichthyosis 1 |
Reversed | 1 |
HGVS | NC_000014.8:g.24727586_24727590delTGGAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032720.17, |