rs201933838
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201933838(C;T) |
Make rs201933838(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 58214740 |
Gene | MKS1 |
is a | snp |
is | mentioned by |
dbSNP | rs201933838 |
dbSNP (classic) | rs201933838 |
ClinGen | rs201933838 |
ebi | rs201933838 |
HLI | rs201933838 |
Exac | rs201933838 |
Gnomad | rs201933838 |
Varsome | rs201933838 |
LitVar | rs201933838 |
Map | rs201933838 |
PheGenI | rs201933838 |
Biobank | rs201933838 |
1000 genomes | rs201933838 |
hgdp | rs201933838 |
ensembl | rs201933838 |
geneview | rs201933838 |
scholar | rs201933838 |
rs201933838 | |
pharmgkb | rs201933838 |
gwascentral | rs201933838 |
openSNP | rs201933838 |
23andMe | rs201933838 |
SNPshot | rs201933838 |
SNPdbe | rs201933838 |
MSV3d | rs201933838 |
GWAS Ctlg | rs201933838 |
GMAF | 0.0 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201933838(T;T) |
Alt | rs201933838(T;T) |
Reference | Rs201933838(C;C) |
Significance | Probable-Pathogenic |
Disease | Meckel syndrome type 1 |
Variation | info |
Gene | MKS1 |
CLNDBN | Meckel syndrome type 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.56292101C>T |
CLNSRC | ClinVar |
CLNACC | RCV000050037.1, |
[PMID 17437276] Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.