chr4:99144933:T>C Detail (hg38)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:100,066,084-100,066,084 View the variant detail on this assembly version. |
hg38 | chr4:99,144,933-99,144,933 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.736 | |
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 |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Withdrawal Symptoms | No evidence for association with the alcohol dependence diagnosis was observed, ... | BeFree | 21635275 | Detail |
<0.001 | Withdrawal Symptoms | No evidence for association with the alcohol dependence diagnosis was observed, ... | BeFree | 21635275 | Detail |
0.015 | Alcoholic Intoxication, Chronic | The ADH4 SNP rs3762894 was associated with AD in Plains Indians. | BeFree | 21083667 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
No evidence for association with the alcohol dependence diagnosis was observed, but an SNP in exon 9... | DisGeNET | Detail |
No evidence for association with the alcohol dependence diagnosis was observed, but an SNP in exon 9... | DisGeNET | Detail |
The ADH4 SNP rs3762894 was associated with AD in Plains Indians. | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs3762894 dbSNP
- Genome
- hg38
- Position
- chr4:99,144,933-99,144,933
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs3762894
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7363
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12340
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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