rs61434181
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs61434181(A;G) |
Make rs61434181(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 40819575 |
Gene | KRT10, TMEM99 |
is a | snp |
is | mentioned by |
dbSNP | rs61434181 |
dbSNP (classic) | rs61434181 |
ClinGen | rs61434181 |
ebi | rs61434181 |
HLI | rs61434181 |
Exac | rs61434181 |
Gnomad | rs61434181 |
Varsome | rs61434181 |
LitVar | rs61434181 |
Map | rs61434181 |
PheGenI | rs61434181 |
Biobank | rs61434181 |
1000 genomes | rs61434181 |
hgdp | rs61434181 |
ensembl | rs61434181 |
geneview | rs61434181 |
scholar | rs61434181 |
rs61434181 | |
pharmgkb | rs61434181 |
gwascentral | rs61434181 |
openSNP | rs61434181 |
23andMe | rs61434181 |
SNPshot | rs61434181 |
SNPdbe | rs61434181 |
MSV3d | rs61434181 |
GWAS Ctlg | rs61434181 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61434181(G;G) rs61434181(T;T) |
Alt | rs61434181(G;G) rs61434181(T;T) |
Reference | Rs61434181(A;A) |
Significance | Pathogenic |
Disease | Bullous ichthyosiform erythroderma not provided |
Variation | info |
Gene | KRT10 TMEM99 |
CLNDBN | Bullous ichthyosiform erythroderma not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.38975827T>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015679.21, RCV000056478.1, |