chr13:28399484:G>A Detail (hg38) (FLT1)

Information

Genome

Assembly Position
hg19 chr13:28,973,621-28,973,621 View the variant detail on this assembly version.
hg38 chr13:28,399,484-28,399,484

HGVS

Type Transcript Protein
RefSeq NM_002019.4:c.1552-2416C>T
NM_001160030.1:c.1552-2416C>T
NM_001159920.1:c.1552-2416C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.378
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
Type Database ID Link
Gene MIM 165070 OMIM
HGNC 3763 HGNC
Ensembl ENSG00000102755 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv48117069 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 Chronic Kidney Diseases The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, ... BeFree 25524550 Detail
<0.001 Chronic Kidney Diseases Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Chronic Kidney Diseases Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
<0.001 Dyslipidemias Multivariable logistic regression analysis with adjustment for age, sex, body ma... BeFree 25524550 Detail
Annotation

Annotations

DescrptionSourceLinks
The χ(2) test revealed that rs4845625 (T→C) of IL6R, rs4773144 (A→G) of COL4A1, rs9319428 (G→A) of F... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail
Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the pr... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9319428 dbSNP
Genome
hg38
Position
chr13:28,399,484-28,399,484
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))
rs9319428
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3776
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6329
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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