rs104893887
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs104893887(A;T) |
Make rs104893887(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 44310447 |
Gene | FGF10 |
is a | snp |
is | mentioned by |
dbSNP | rs104893887 |
dbSNP (classic) | rs104893887 |
ClinGen | rs104893887 |
ebi | rs104893887 |
HLI | rs104893887 |
Exac | rs104893887 |
Gnomad | rs104893887 |
Varsome | rs104893887 |
LitVar | rs104893887 |
Map | rs104893887 |
PheGenI | rs104893887 |
Biobank | rs104893887 |
1000 genomes | rs104893887 |
hgdp | rs104893887 |
ensembl | rs104893887 |
geneview | rs104893887 |
scholar | rs104893887 |
rs104893887 | |
pharmgkb | rs104893887 |
gwascentral | rs104893887 |
openSNP | rs104893887 |
23andMe | rs104893887 |
SNPshot | rs104893887 |
SNPdbe | rs104893887 |
MSV3d | rs104893887 |
GWAS Ctlg | rs104893887 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893887(T;T) |
Alt | rs104893887(T;T) |
Reference | Rs104893887(A;A) |
Significance | Pathogenic |
Disease | Congenital absence of salivary gland Levy-Hollister syndrome |
Variation | info |
Gene | FGF10 |
CLNDBN | Congenital absence of salivary gland Levy-Hollister syndrome |
Reversed | 1 |
HGVS | NC_000005.9:g.44310549T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007968.3, RCV000007969.3, |