chr9:107690450:G>A Detail (hg19) (ABCA1, LOC105376196, LOC130002275)

Information

Genome

Assembly Position
hg19 chr9:107,690,450-107,690,450
hg38 chr9:104,928,169-104,928,169 View the variant detail on this assembly version.

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 Benign
Review star
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Tangier disease germline Detail
Benign 2016-06-14 criteria provided, single submitter Familial High Density Lipoprotein Deficiency germline Detail
Benign 2021-05-08 criteria provided, single submitter not provided germline 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 &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.006 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
0.011 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Subarachnoid Hemorrhage An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 cerebral infarction An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
<0.001 Cerebrovascular accident An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivaria... BeFree 18566305 Detail
Annotation

Annotations

DescrptionSourceLinks
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 &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
An initial chi(2) test (false discovery rate &lt;0.05) and subsequent multivariable logistic-regress... DisGeNET Detail
Gene
-
dbSNP
rs1800977 dbSNP
Genome
hg19
Position
chr9:107,690,450-107,690,450
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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