rs387906737
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs387906737(A;C) |
Make rs387906737(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 97022192 |
Gene | DLX5 |
is a | snp |
is | mentioned by |
dbSNP | rs387906737 |
dbSNP (classic) | rs387906737 |
ClinGen | rs387906737 |
ebi | rs387906737 |
HLI | rs387906737 |
Exac | rs387906737 |
Gnomad | rs387906737 |
Varsome | rs387906737 |
LitVar | rs387906737 |
Map | rs387906737 |
PheGenI | rs387906737 |
Biobank | rs387906737 |
1000 genomes | rs387906737 |
hgdp | rs387906737 |
ensembl | rs387906737 |
geneview | rs387906737 |
scholar | rs387906737 |
rs387906737 | |
pharmgkb | rs387906737 |
gwascentral | rs387906737 |
openSNP | rs387906737 |
23andMe | rs387906737 |
SNPshot | rs387906737 |
SNPdbe | rs387906737 |
MSV3d | rs387906737 |
GWAS Ctlg | rs387906737 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906737(C;C) |
Alt | rs387906737(C;C) |
Reference | Rs387906737(A;A) |
Significance | Pathogenic |
Disease | Split-hand/foot malformation 1 with sensorineural hearing loss |
Variation | info |
Gene | DLX5 |
CLNDBN | Split-hand/foot malformation 1 with sensorineural hearing loss |
Reversed | 1 |
HGVS | NC_000007.13:g.96651504T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000022921.8, |