chr9:104928169:G>A Detail (hg38) (ABCA1, LOC105376196, LOC130002275)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:107,690,450-107,690,450 View the variant detail on this assembly version. |
hg38 | chr9:104,928,169-104,928,169 |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.250 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-06-14 | criteria provided, single submitter | Tangier disease |
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Detail |
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2016-06-14 | criteria provided, single submitter | Familial High Density Lipoprotein Deficiency |
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Detail |
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2021-05-08 | criteria provided, single submitter | not provided |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | Cerebrovascular accident | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
0.003 | Cerebrovascular accident | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
<0.001 | Subarachnoid Hemorrhage | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
0.006 | cerebral infarction | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
0.011 | Cerebrovascular accident | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
<0.001 | cerebral infarction | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
<0.001 | Subarachnoid Hemorrhage | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
<0.001 | cerebral infarction | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
<0.001 | cerebral infarction | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
<0.001 | Cerebrovascular accident | An initial chi(2) test (false discovery rate <0.05) and subsequent multivaria... | BeFree | 18566305 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_005502.3(ABCA1):c.-327C>T AND Tangier disease | ClinVar | Detail |
NM_005502.3(ABCA1):c.-327C>T AND Familial High Density Lipoprotein Deficiency | ClinVar | Detail |
NM_005502.3(ABCA1):c.-327C>T AND not provided | ClinVar | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
An initial chi(2) test (false discovery rate <0.05) and subsequent multivariable logistic-regress... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1800977 dbSNP
- Genome
- hg38
- Position
- chr9:104,928,169-104,928,169
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs1800977
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2497
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 4185
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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