chr2:191839976:C>T Detail (hg19) (STAT1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:191,839,976-191,839,976 |
hg38 | chr2:190,975,250-190,975,250 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_007315.3:c.2136-318G>A | |
Ensemble | ENST00000361099.8:c.2136-318G>A | |
ENST00000409465.5:c.2136-318G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.338 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Acute Q fever | Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 ... | BeFree | 25577174 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_007315.4(STAT1):c.2136-318G>A AND not provided | ClinVar | Detail |
NM_007315.4(STAT1):c.2136-318G>A AND not specified | ClinVar | Detail |
Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 (rs1914408), and VDR... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1914408 dbSNP
- Genome
- hg19
- Position
- chr2:191,839,976-191,839,976
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1914408
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3383
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5670
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser