rs149010496
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs149010496(C;T) |
Make rs149010496(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 119067306 |
Gene | COLEC10, LOC101927513 |
is a | snp |
is | mentioned by |
dbSNP | rs149010496 |
dbSNP (classic) | rs149010496 |
ClinGen | rs149010496 |
ebi | rs149010496 |
HLI | rs149010496 |
Exac | rs149010496 |
Gnomad | rs149010496 |
Varsome | rs149010496 |
LitVar | rs149010496 |
Map | rs149010496 |
PheGenI | rs149010496 |
Biobank | rs149010496 |
1000 genomes | rs149010496 |
hgdp | rs149010496 |
ensembl | rs149010496 |
geneview | rs149010496 |
scholar | rs149010496 |
rs149010496 | |
pharmgkb | rs149010496 |
gwascentral | rs149010496 |
openSNP | rs149010496 |
23andMe | rs149010496 |
SNPshot | rs149010496 |
SNPdbe | rs149010496 |
MSV3d | rs149010496 |
GWAS Ctlg | rs149010496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149010496(T;T) |
Alt | rs149010496(T;T) |
Reference | Rs149010496(C;C) |
Significance | Pathogenic |
Disease | Malpuech facial clefting syndrome |
Variation | info |
Gene | LOC101927513 COLEC10 |
CLNDBN | Malpuech facial clefting syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.120079545C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000477687.1, |