rs201940939
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201940939(C;T) |
Make rs201940939(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 10 |
Position | 104060114 |
Gene | COL17A1 |
is a | snp |
is | mentioned by |
dbSNP | rs201940939 |
dbSNP (classic) | rs201940939 |
ClinGen | rs201940939 |
ebi | rs201940939 |
HLI | rs201940939 |
Exac | rs201940939 |
Gnomad | rs201940939 |
Varsome | rs201940939 |
LitVar | rs201940939 |
Map | rs201940939 |
PheGenI | rs201940939 |
Biobank | rs201940939 |
1000 genomes | rs201940939 |
hgdp | rs201940939 |
ensembl | rs201940939 |
geneview | rs201940939 |
scholar | rs201940939 |
rs201940939 | |
pharmgkb | rs201940939 |
gwascentral | rs201940939 |
openSNP | rs201940939 |
23andMe | rs201940939 |
SNPshot | rs201940939 |
SNPdbe | rs201940939 |
MSV3d | rs201940939 |
GWAS Ctlg | rs201940939 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201940939(T;T) |
Alt | rs201940939(T;T) |
Reference | Rs201940939(C;C) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | COL17A1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000010.10:g.105819872C>T |
CLNSRC | |
CLNACC | RCV000493091.1, |