rs431825172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs431825172(-;TA) |
Make rs431825172(TA;TA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 150987788 |
Gene | HMGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs431825172 |
dbSNP (classic) | rs431825172 |
ClinGen | rs431825172 |
ebi | rs431825172 |
HLI | rs431825172 |
Exac | rs431825172 |
Gnomad | rs431825172 |
Varsome | rs431825172 |
LitVar | rs431825172 |
Map | rs431825172 |
PheGenI | rs431825172 |
Biobank | rs431825172 |
1000 genomes | rs431825172 |
hgdp | rs431825172 |
ensembl | rs431825172 |
geneview | rs431825172 |
scholar | rs431825172 |
rs431825172 | |
pharmgkb | rs431825172 |
gwascentral | rs431825172 |
openSNP | rs431825172 |
23andMe | rs431825172 |
SNPshot | rs431825172 |
SNPdbe | rs431825172 |
MSV3d | rs431825172 |
GWAS Ctlg | rs431825172 |
Merged from | Rs587777541 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs431825172(TA;TA) |
Alt | rs431825172(TA;TA) |
Reference | Rs431825172(-;-) |
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, |