rs397507557
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TAAAGTC;TAAAGTC) | 0 | common in clinvar |
Make rs397507557(-;-) |
Make rs397507557(-;TAAAGTC) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 13736680 |
Gene | OFD1 |
is a | snp |
is | mentioned by |
dbSNP | rs397507557 |
dbSNP (classic) | rs397507557 |
ClinGen | rs397507557 |
ebi | rs397507557 |
HLI | rs397507557 |
Exac | rs397507557 |
Gnomad | rs397507557 |
Varsome | rs397507557 |
LitVar | rs397507557 |
Map | rs397507557 |
PheGenI | rs397507557 |
Biobank | rs397507557 |
1000 genomes | rs397507557 |
hgdp | rs397507557 |
ensembl | rs397507557 |
geneview | rs397507557 |
scholar | rs397507557 |
rs397507557 | |
pharmgkb | rs397507557 |
gwascentral | rs397507557 |
openSNP | rs397507557 |
23andMe | rs397507557 |
SNPshot | rs397507557 |
SNPdbe | rs397507557 |
MSV3d | rs397507557 |
GWAS Ctlg | rs397507557 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397507557(-;-) |
Alt | rs397507557(-;-) |
Reference | Rs397507557(TAAAGTC;TAAAGTC) |
Significance | Pathogenic |
Disease | Oral-facial-digital syndrome |
Variation | info |
Gene | OFD1 |
CLNDBN | Oral-facial-digital syndrome |
Reversed | 0 |
HGVS | NC_000023.10:g.13754799_13754805delTAAAGTC |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000034008.2, |