rs886039431
From SNPedia
Merged into | rs113993990 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs886039431(-;-) |
Make rs886039431(-;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 7 |
Position | 66995298 |
Gene | SBDS, TYW1 |
is a | snp |
is | mentioned by |
dbSNP | rs886039431 |
dbSNP (classic) | rs886039431 |
ClinGen | rs886039431 |
ebi | rs886039431 |
HLI | rs886039431 |
Exac | rs886039431 |
Gnomad | rs886039431 |
Varsome | rs886039431 |
LitVar | rs886039431 |
Map | rs886039431 |
PheGenI | rs886039431 |
Biobank | rs886039431 |
1000 genomes | rs886039431 |
hgdp | rs886039431 |
ensembl | rs886039431 |
geneview | rs886039431 |
scholar | rs886039431 |
rs886039431 | |
pharmgkb | rs886039431 |
gwascentral | rs886039431 |
openSNP | rs886039431 |
23andMe | rs886039431 |
SNPshot | rs886039431 |
SNPdbe | rs886039431 |
MSV3d | rs886039431 |
GWAS Ctlg | rs886039431 |
Status | Merged into rs113993990 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs886039431(G;G) |
Significance | Pathogenic |
Disease | Shwachman syndrome not provided |
Variation | info |
Gene | SBDS TYW1 |
CLNDBN | Shwachman syndrome not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.66460285delC |
CLNSRC | |
CLNACC | RCV000020725.1, RCV000255360.1, |