chr6:127600630:G>A Detail (hg19) (RNF146)

Information

Genome

Assembly Position
hg19 chr6:127,600,630-127,600,630
hg38 chr6:127,279,485-127,279,485 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001242846.1:c.-380-746G>A
NM_001242848.1:c.-380-746G>A
NM_030963.3:c.-380-746G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.771
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 612137 OMIM
HGNC 21336 HGNC
Ensembl ENSG00000118518 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv26953552 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 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.132 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.001 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.003 breast carcinoma We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.123 Malignant neoplasm of breast We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662... BeFree 21791674 Detail
0.162 Malignant neoplasm of breast Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show... BeFree 21791674 Detail
0.123 Malignant neoplasm of breast Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show... BeFree 21791674 Detail
0.004 breast carcinoma Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show... BeFree 21791674 Detail
<0.001 breast carcinoma Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show... BeFree 21791674 Detail
0.123 Malignant neoplasm of breast [Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein i... GAD 18326623 Detail
0.123 Malignant neoplasm of breast Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein in... GWASCAT 18326623 Detail
0.005 Malignant neoplasm of breast [Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein i... GAD 18326623 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
We genotyped 17 germline SNPs (FGFR2-rs2981582, FGFR2-rs3750817, TNRC9-rs3803662, 2q35-rs13387042, M... DisGeNET Detail
Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with br... DisGeNET Detail
Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with br... DisGeNET Detail
Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with br... DisGeNET Detail
Three SNPs (LSP1-rs3817198, COL1A1-rs2075555, and RNF146-rs2180341) did not show association with br... DisGeNET Detail
[Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochond... DisGeNET Detail
Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochondr... DisGeNET Detail
[Candidate genes in the 6q22.33 region include ECHDC1, which encodes a protein involved in mitochond... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2180341 dbSNP
Genome
hg19
Position
chr6:127,600,630-127,600,630
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))
rs2180341
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7711
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12924
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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