rs4614723
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(T;T) | 0 | common in complete genomics |
Make rs4614723(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 51137264 |
Gene | LOC105371253, SALL1 |
is a | snp |
is | mentioned by |
dbSNP | rs4614723 |
dbSNP (classic) | rs4614723 |
ClinGen | rs4614723 |
ebi | rs4614723 |
HLI | rs4614723 |
Exac | rs4614723 |
Gnomad | rs4614723 |
Varsome | rs4614723 |
LitVar | rs4614723 |
Map | rs4614723 |
PheGenI | rs4614723 |
Biobank | rs4614723 |
1000 genomes | rs4614723 |
hgdp | rs4614723 |
ensembl | rs4614723 |
geneview | rs4614723 |
scholar | rs4614723 |
rs4614723 | |
pharmgkb | rs4614723 |
gwascentral | rs4614723 |
openSNP | rs4614723 |
23andMe | rs4614723 |
SNPshot | rs4614723 |
SNPdbe | rs4614723 |
MSV3d | rs4614723 |
GWAS Ctlg | rs4614723 |
GMAF | 0.02204 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 18280297] Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
ClinVar | |
---|---|
Risk | Rs4614723(T;T) |
Alt | Rs4614723(T;T) |
Reference | Rs4614723(C;C) |
Significance | Non-pathogenic |
Disease | not specified Townes syndrome |
Variation | info |
Gene | SALL1 |
CLNDBN | not specified Townes syndrome |
Reversed | 0 |
HGVS | NC_000016.9:g.51171175C>T |
CLNSRC | |
CLNACC | RCV000242039.1, RCV000349793.1, |