rs386834000
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs386834000(-;A) |
Make rs386834000(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 59049361 |
Gene | TRIM37 |
is a | snp |
is | mentioned by |
dbSNP | rs386834000 |
dbSNP (classic) | rs386834000 |
ClinGen | rs386834000 |
ebi | rs386834000 |
HLI | rs386834000 |
Exac | rs386834000 |
Gnomad | rs386834000 |
Varsome | rs386834000 |
LitVar | rs386834000 |
Map | rs386834000 |
PheGenI | rs386834000 |
Biobank | rs386834000 |
1000 genomes | rs386834000 |
hgdp | rs386834000 |
ensembl | rs386834000 |
geneview | rs386834000 |
scholar | rs386834000 |
rs386834000 | |
pharmgkb | rs386834000 |
gwascentral | rs386834000 |
openSNP | rs386834000 |
23andMe | rs386834000 |
SNPshot | rs386834000 |
SNPdbe | rs386834000 |
MSV3d | rs386834000 |
GWAS Ctlg | rs386834000 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834000(A;A) |
Alt | rs386834000(A;A) |
Reference | Rs386834000(-;-) |
Significance | Probable-Pathogenic |
Disease | Mulibrey nanism syndrome |
Variation | info |
Gene | TRIM37 |
CLNDBN | Mulibrey nanism syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.57126723dupT |
CLNSRC | ClinVar |
CLNACC | RCV000049977.1, |
[PMID 10888877] Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.