chr15:71802020:G>C Detail (hg19) (THSD4)

Information

Genome

Assembly Position
hg19 chr15:71,802,020-71,802,020
hg38 chr15:71,509,681-71,509,681 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024817.2:c.1152+97858G>C
Ensemble ENST00000261862.8:c.1152+97858G>C
ENST00000355327.7:c.1152+97858G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.958
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 614476 OMIM
HGNC 25835 HGNC
Ensembl ENSG00000187720 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53461706 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
0.003 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
<0.001 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
0.248 Chronic Obstructive Airway Disease We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13... BeFree 22461431 Detail
Annotation

Annotations

DescrptionSourceLinks
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail
We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4316710 dbSNP
Genome
hg19
Position
chr15:71,802,020-71,802,020
Variant Type
snv
Reference Allele
G
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))
rs4316710
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9578
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16053
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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