chr1:22394625:A>G Detail (hg19) (CDC42)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:22,394,625-22,394,625 |
hg38 | chr1:22,068,132-22,068,132 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001791.3:c.-50-10297A>G | |
NM_044472.2:c.-50-10297A>G | ||
NM_001039802.1:c.-176-5962A>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.150 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Ichthyosis bullosa of Siemens | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... | BeFree | 24041540 | Detail |
<0.001 | irritable bowel syndrome | Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13,... | BeFree | 24041540 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... | DisGeNET | Detail |
Additionally, three SNPs in immune-related genes (rs1464510-LPP, rs1881457-IL13, rs2104286-IL2RA), o... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs17837965 dbSNP
- Genome
- hg19
- Position
- chr1:22,394,625-22,394,625
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs17837965
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1497
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2509
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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