rs587777644
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CACT;CACT) | 0 | common in clinvar |
(CTCA;CTCA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs587777644(-;-) |
Make rs587777644(-;CACT) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 76733062 |
Gene | METTL23 |
is a | snp |
is | mentioned by |
dbSNP | rs587777644 |
dbSNP (classic) | rs587777644 |
ClinGen | rs587777644 |
ebi | rs587777644 |
HLI | rs587777644 |
Exac | rs587777644 |
Gnomad | rs587777644 |
Varsome | rs587777644 |
LitVar | rs587777644 |
Map | rs587777644 |
PheGenI | rs587777644 |
Biobank | rs587777644 |
1000 genomes | rs587777644 |
hgdp | rs587777644 |
ensembl | rs587777644 |
geneview | rs587777644 |
scholar | rs587777644 |
rs587777644 | |
pharmgkb | rs587777644 |
gwascentral | rs587777644 |
openSNP | rs587777644 |
23andMe | rs587777644 |
SNPshot | rs587777644 |
SNPdbe | rs587777644 |
MSV3d | rs587777644 |
GWAS Ctlg | rs587777644 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777644(-;-) Rs587777644(CTCA;CTCA) |
Alt | rs587777644(-;-) Rs587777644(CTCA;CTCA) |
Reference | Rs587777644(CACT;CACT) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | METTL23 |
CLNDBN | Mental retardation, autosomal recessive 44 |
Reversed | 0 |
HGVS | NC_000017.10:g.74729144_74729147delCACT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000133532.2, |