rs202037016
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs202037016(C;T) |
Make rs202037016(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 24259159 |
Gene | TGM1 |
is a | snp |
is | mentioned by |
dbSNP | rs202037016 |
dbSNP (classic) | rs202037016 |
ClinGen | rs202037016 |
ebi | rs202037016 |
HLI | rs202037016 |
Exac | rs202037016 |
Gnomad | rs202037016 |
Varsome | rs202037016 |
LitVar | rs202037016 |
Map | rs202037016 |
PheGenI | rs202037016 |
Biobank | rs202037016 |
1000 genomes | rs202037016 |
hgdp | rs202037016 |
ensembl | rs202037016 |
geneview | rs202037016 |
scholar | rs202037016 |
rs202037016 | |
pharmgkb | rs202037016 |
gwascentral | rs202037016 |
openSNP | rs202037016 |
23andMe | rs202037016 |
SNPshot | rs202037016 |
SNPdbe | rs202037016 |
MSV3d | rs202037016 |
GWAS Ctlg | rs202037016 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs202037016(T;T) |
Alt | rs202037016(T;T) |
Reference | Rs202037016(C;C) |
Significance | Pathogenic |
Disease | Autosomal recessive congenital ichthyosis 1 |
Variation | info |
Gene | TGM1 |
CLNDBN | Autosomal recessive congenital ichthyosis 1 |
Reversed | 0 |
HGVS | NC_000014.8:g.24728365C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000032730.24, |