rs398122828
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122828(A;A) |
Make rs398122828(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 102915630 |
Gene | COL11A1 |
is a | snp |
is | mentioned by |
dbSNP | rs398122828 |
dbSNP (classic) | rs398122828 |
ClinGen | rs398122828 |
ebi | rs398122828 |
HLI | rs398122828 |
Exac | rs398122828 |
Gnomad | rs398122828 |
Varsome | rs398122828 |
LitVar | rs398122828 |
Map | rs398122828 |
PheGenI | rs398122828 |
Biobank | rs398122828 |
1000 genomes | rs398122828 |
hgdp | rs398122828 |
ensembl | rs398122828 |
geneview | rs398122828 |
scholar | rs398122828 |
rs398122828 | |
pharmgkb | rs398122828 |
gwascentral | rs398122828 |
openSNP | rs398122828 |
23andMe | rs398122828 |
SNPshot | rs398122828 |
SNPdbe | rs398122828 |
MSV3d | rs398122828 |
GWAS Ctlg | rs398122828 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122828(A;A) |
Alt | rs398122828(A;A) |
Reference | Rs398122828(G;G) |
Significance | Pathogenic |
Disease | Marshall syndrome |
Variation | info |
Gene | COL11A1 |
CLNDBN | Marshall syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.103381186C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032995.31, |