chr2:88425775:C>T Detail (hg19) (FABP1)

Information

Genome

Assembly Position
hg19 chr2:88,425,775-88,425,775
hg38 chr2:88,126,256-88,126,256 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001443.2:c.160G>A NP_001434.1:p.Ala54Thr
Ensemble ENST00000295834.8:c.160G>A ENST00000295834.8:p.Ala54Thr
ENST00000393750.3:c.160G>A ENST00000393750.3:p.Ala54Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 134650 OMIM
HGNC 3555 HGNC
Ensembl ENSG00000163586 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv7735963 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.011 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.115 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.005 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 Cerebrovascular accident The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.002 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.003 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.122 cerebral infarction The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
<0.001 diabetes mellitus The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.006 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
0.143 Hypertensive disease The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 18506375 Detail
Annotation

Annotations

DescrptionSourceLinks
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for age, sex, body m... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr2:88,425,775-88,425,775
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121408
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.2946758039008963E-5
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