rs387907209
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907209(A;A) |
Make rs387907209(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 21842326 |
Gene | ABCC9 |
is a | snp |
is | mentioned by |
dbSNP | rs387907209 |
dbSNP (classic) | rs387907209 |
ClinGen | rs387907209 |
ebi | rs387907209 |
HLI | rs387907209 |
Exac | rs387907209 |
Gnomad | rs387907209 |
Varsome | rs387907209 |
LitVar | rs387907209 |
Map | rs387907209 |
PheGenI | rs387907209 |
Biobank | rs387907209 |
1000 genomes | rs387907209 |
hgdp | rs387907209 |
ensembl | rs387907209 |
geneview | rs387907209 |
scholar | rs387907209 |
rs387907209 | |
pharmgkb | rs387907209 |
gwascentral | rs387907209 |
openSNP | rs387907209 |
23andMe | rs387907209 |
SNPshot | rs387907209 |
SNPdbe | rs387907209 |
MSV3d | rs387907209 |
GWAS Ctlg | rs387907209 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907209(A;A) rs387907209(C;C) |
Alt | rs387907209(A;A) rs387907209(C;C) |
Reference | Rs387907209(G;G) |
Significance | Pathogenic |
Disease | Hypertrichotic osteochondrodysplasia not provided |
Variation | info |
Gene | ABCC9 |
CLNDBN | Hypertrichotic osteochondrodysplasia not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.21995260C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024625.2, RCV000256056.1, |