chr18:60986837:G>T Detail (hg19) (BCL2)

Information

Genome

Assembly Position
hg19 chr18:60,986,837-60,986,837
hg38 chr18:63,319,604-63,319,604 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000633.2:c.-938C>A
Ensemble ENST00000333681.5:c.-717C>A
ENST00000398117.1:c.-938C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.365
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 151430 OMIM
HGNC 990 HGNC
Ensembl ENSG00000171791 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv60284682 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
0.018 Malignant neoplasm of lung [When numeric scores were assigned to both the SNP and demographic data, and seq... GAD 19789190 Detail
0.017 stomach carcinoma Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
0.015 Malignant neoplasm of stomach Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
0.010 Malignant neoplasm of stomach Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
0.124 Malignant neoplasm of stomach Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
<0.001 Malignant neoplasm of stomach Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
0.010 stomach carcinoma Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
<0.001 stomach carcinoma Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
0.004 stomach carcinoma Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (r... BeFree 26554163 Detail
Annotation

Annotations

DescrptionSourceLinks
[When numeric scores were assigned to both the SNP and demographic data, and sequentially combined b... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail
Genetic Variation of BCL2 (rs2279115), NEIL2 (rs804270), LTA (rs909253), PSCA (rs2294008) and PLCE1 ... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2279115 dbSNP
Genome
hg19
Position
chr18:60,986,837-60,986,837
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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))
rs2279115
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3653
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6123
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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