rs672601340
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs672601340(C;T) |
Make rs672601340(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 10 |
Position | 246791 |
Gene | LOC107984190, ZMYND11 |
is a | snp |
is | mentioned by |
dbSNP | rs672601340 |
dbSNP (classic) | rs672601340 |
ClinGen | rs672601340 |
ebi | rs672601340 |
HLI | rs672601340 |
Exac | rs672601340 |
Gnomad | rs672601340 |
Varsome | rs672601340 |
LitVar | rs672601340 |
Map | rs672601340 |
PheGenI | rs672601340 |
Biobank | rs672601340 |
1000 genomes | rs672601340 |
hgdp | rs672601340 |
ensembl | rs672601340 |
geneview | rs672601340 |
scholar | rs672601340 |
rs672601340 | |
pharmgkb | rs672601340 |
gwascentral | rs672601340 |
openSNP | rs672601340 |
23andMe | rs672601340 |
SNPshot | rs672601340 |
SNPdbe | rs672601340 |
MSV3d | rs672601340 |
GWAS Ctlg | rs672601340 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs672601340(T;T) |
Alt | rs672601340(T;T) |
Reference | Rs672601340(C;C) |
Significance | Pathogenic |
Disease | Mental retardation |
Variation | info |
Gene | ZMYND11 |
CLNDBN | Mental retardation, autosomal dominant 30 |
Reversed | 0 |
HGVS | NC_000010.10:g.292731C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000144897.3, |