rs137852212
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852212(C;G) |
Make rs137852212(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 132084546 |
Gene | FRMD7 |
is a | snp |
is | mentioned by |
dbSNP | rs137852212 |
dbSNP (classic) | rs137852212 |
ClinGen | rs137852212 |
ebi | rs137852212 |
HLI | rs137852212 |
Exac | rs137852212 |
Gnomad | rs137852212 |
Varsome | rs137852212 |
LitVar | rs137852212 |
Map | rs137852212 |
PheGenI | rs137852212 |
Biobank | rs137852212 |
1000 genomes | rs137852212 |
hgdp | rs137852212 |
ensembl | rs137852212 |
geneview | rs137852212 |
scholar | rs137852212 |
rs137852212 | |
pharmgkb | rs137852212 |
gwascentral | rs137852212 |
openSNP | rs137852212 |
23andMe | rs137852212 |
SNPshot | rs137852212 |
SNPdbe | rs137852212 |
MSV3d | rs137852212 |
GWAS Ctlg | rs137852212 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852212(G;G) rs137852212(T;T) |
Alt | rs137852212(G;G) rs137852212(T;T) |
Reference | Rs137852212(C;C) |
Significance | Pathogenic |
Disease | Infantile nystagmus |
Variation | info |
Gene | FRMD7 |
CLNDBN | Infantile nystagmus, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.131218574G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011536.4, |