rs386834006
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386834006(A;A) |
Make rs386834006(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 59064406 |
Gene | TRIM37 |
is a | snp |
is | mentioned by |
dbSNP | rs386834006 |
dbSNP (classic) | rs386834006 |
ClinGen | rs386834006 |
ebi | rs386834006 |
HLI | rs386834006 |
Exac | rs386834006 |
Gnomad | rs386834006 |
Varsome | rs386834006 |
LitVar | rs386834006 |
Map | rs386834006 |
PheGenI | rs386834006 |
Biobank | rs386834006 |
1000 genomes | rs386834006 |
hgdp | rs386834006 |
ensembl | rs386834006 |
geneview | rs386834006 |
scholar | rs386834006 |
rs386834006 | |
pharmgkb | rs386834006 |
gwascentral | rs386834006 |
openSNP | rs386834006 |
23andMe | rs386834006 |
SNPshot | rs386834006 |
SNPdbe | rs386834006 |
MSV3d | rs386834006 |
GWAS Ctlg | rs386834006 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834006(A;A) |
Alt | rs386834006(A;A) |
Reference | Rs386834006(G;G) |
Significance | Probable-Pathogenic |
Disease | Mulibrey nanism syndrome |
Variation | info |
Gene | TRIM37 |
CLNDBN | Mulibrey nanism syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.57141767C>T |
CLNSRC | ClinVar |
CLNACC | RCV000049984.1, |
[PMID 12754710] A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.