rs769471844
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs769471844(A;A) |
Make rs769471844(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 78124181 |
Gene | TMC6 |
is a | snp |
is | mentioned by |
dbSNP | rs769471844 |
dbSNP (classic) | rs769471844 |
ClinGen | rs769471844 |
ebi | rs769471844 |
HLI | rs769471844 |
Exac | rs769471844 |
Gnomad | rs769471844 |
Varsome | rs769471844 |
LitVar | rs769471844 |
Map | rs769471844 |
PheGenI | rs769471844 |
Biobank | rs769471844 |
1000 genomes | rs769471844 |
hgdp | rs769471844 |
ensembl | rs769471844 |
geneview | rs769471844 |
scholar | rs769471844 |
rs769471844 | |
pharmgkb | rs769471844 |
gwascentral | rs769471844 |
openSNP | rs769471844 |
23andMe | rs769471844 |
SNPshot | rs769471844 |
SNPdbe | rs769471844 |
MSV3d | rs769471844 |
GWAS Ctlg | rs769471844 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769471844(A;A) |
Alt | rs769471844(A;A) |
Reference | Rs769471844(T;T) |
Significance | Pathogenic |
Disease | EPIDERMODYSPLASIA VERRUCIFORMIS |
Variation | info |
Gene | TMC6 |
CLNDBN | EPIDERMODYSPLASIA VERRUCIFORMIS |
Reversed | 0 |
HGVS | NC_000017.10:g.76120262T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000005017.4, |