rs387907175
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907175(A;A) |
Make rs387907175(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 74505039 |
Gene | LTBP2 |
is a | snp |
is | mentioned by |
dbSNP | rs387907175 |
dbSNP (classic) | rs387907175 |
ClinGen | rs387907175 |
ebi | rs387907175 |
HLI | rs387907175 |
Exac | rs387907175 |
Gnomad | rs387907175 |
Varsome | rs387907175 |
LitVar | rs387907175 |
Map | rs387907175 |
PheGenI | rs387907175 |
Biobank | rs387907175 |
1000 genomes | rs387907175 |
hgdp | rs387907175 |
ensembl | rs387907175 |
geneview | rs387907175 |
scholar | rs387907175 |
rs387907175 | |
pharmgkb | rs387907175 |
gwascentral | rs387907175 |
openSNP | rs387907175 |
23andMe | rs387907175 |
SNPshot | rs387907175 |
SNPdbe | rs387907175 |
MSV3d | rs387907175 |
GWAS Ctlg | rs387907175 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907175(A;A) |
Alt | rs387907175(A;A) |
Reference | Rs387907175(G;G) |
Significance | Pathogenic |
Disease | Microspherophakia |
Variation | info |
Gene | LTBP2 |
CLNDBN | Microspherophakia |
Reversed | 1 |
HGVS | NC_000014.8:g.74971742C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024328.3, |