chr5:83075927:T>G Detail (hg38) (TMEM167A)

Information

Genome

Assembly Position
hg19 chr5:82,371,746-82,371,746 View the variant detail on this assembly version.
hg38 chr5:83,075,927-83,075,927

HGVS

Type Transcript Protein
RefSeq NM_174909.4:c.3+1394A>C
Ensemble ENST00000502346.2:c.3+1394A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.132
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 620000 OMIM
HGNC 28330 HGNC
Ensembl ENSG00000174695 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv21723787 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 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
<0.001 Non-small cell lung carcinoma The authors genotyped 5 potentially functional SNPs-x-ray repair complementing d... BeFree 21717429 Detail
Annotation

Annotations

DescrptionSourceLinks
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail
The authors genotyped 5 potentially functional SNPs-x-ray repair complementing defective repair in C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6869366 dbSNP
Genome
hg38
Position
chr5:83,075,927-83,075,927
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs6869366
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1318
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2209
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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