chr22:29941597:T>C Detail (hg38) (MTMR3)

Information

Genome

Assembly Position
hg19 chr22:30,337,586-30,337,586 View the variant detail on this assembly version.
hg38 chr22:29,941,597-29,941,597

HGVS

Type Transcript Protein
RefSeq NM_153050.2:c.-137-15439T>C
NM_153051.2:c.-137-15439T>C
NM_021090.3:c.-137-15439T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.928
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 603558 OMIM
HGNC 7451 HGNC
Ensembl ENSG00000100330 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65681440 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
0.143 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.155 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.015 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.121 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.125 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
<0.001 Malignant neoplasm of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.009 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.003 Carcinoma of lung The combined analyses identified six well-replicated SNPs with independent effec... BeFree 21725308 Detail
0.002 Lung Neoplasms [A genome-wide association study identifies two new lung cancer susceptibility l... GAD 21725308 Detail
Annotation

Annotations

DescrptionSourceLinks
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
The combined analyses identified six well-replicated SNPs with independent effects and significant l... DisGeNET Detail
[A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs36600 dbSNP
Genome
hg38
Position
chr22:29,941,597-29,941,597
Variant Type
snv
Reference Allele
T
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))
rs36600
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9283
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15558
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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