rs587777541
From SNPedia
Merged into | rs431825172 |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587777541(-;TA) |
Make rs587777541(TA;TA) |
Reference | GRCh38 38.1/142 |
Chromosome | X |
Position | 150987792 |
Gene | HMGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777541 |
dbSNP (classic) | rs587777541 |
ClinGen | rs587777541 |
ebi | rs587777541 |
HLI | rs587777541 |
Exac | rs587777541 |
Gnomad | rs587777541 |
Varsome | rs587777541 |
LitVar | rs587777541 |
Map | rs587777541 |
PheGenI | rs587777541 |
Biobank | rs587777541 |
1000 genomes | rs587777541 |
hgdp | rs587777541 |
ensembl | rs587777541 |
geneview | rs587777541 |
scholar | rs587777541 |
rs587777541 | |
pharmgkb | rs587777541 |
gwascentral | rs587777541 |
openSNP | rs587777541 |
23andMe | rs587777541 |
SNPshot | rs587777541 |
SNPdbe | rs587777541 |
MSV3d | rs587777541 |
GWAS Ctlg | rs587777541 |
Status | Merged into rs431825172 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777541(TA;TA) |
Alt | rs587777541(TA;TA) |
Reference | Rs587777541(;) |
Significance | Pathogenic |
Disease | not provided Microphthalmia |
Variation | info |
Gene | HMGB3 |
CLNDBN | not provided Microphthalmia, syndromic 13 |
Reversed | 0 |
HGVS | NC_000023.10:g.150156264_150156265dupTA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000083250.1, RCV000128635.4, |