rs149366137
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs149366137(A;A) |
Make rs149366137(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 74084972 |
Gene | C2CD3 |
is a | snp |
is | mentioned by |
dbSNP | rs149366137 |
dbSNP (classic) | rs149366137 |
ClinGen | rs149366137 |
ebi | rs149366137 |
HLI | rs149366137 |
Exac | rs149366137 |
Gnomad | rs149366137 |
Varsome | rs149366137 |
LitVar | rs149366137 |
Map | rs149366137 |
PheGenI | rs149366137 |
Biobank | rs149366137 |
1000 genomes | rs149366137 |
hgdp | rs149366137 |
ensembl | rs149366137 |
geneview | rs149366137 |
scholar | rs149366137 |
rs149366137 | |
pharmgkb | rs149366137 |
gwascentral | rs149366137 |
openSNP | rs149366137 |
23andMe | rs149366137 |
SNPshot | rs149366137 |
SNPdbe | rs149366137 |
MSV3d | rs149366137 |
GWAS Ctlg | rs149366137 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs149366137(A;A) |
Alt | rs149366137(A;A) |
Reference | Rs149366137(T;T) |
Significance | Pathogenic |
Disease | Orofaciodigital syndrome xiv |
Variation | info |
Gene | C2CD3 |
CLNDBN | Orofaciodigital syndrome xiv |
Reversed | 0 |
HGVS | NC_000011.9:g.73796017T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133547.4, |