chr2:19121042:T>C Detail (hg38)

Information

Genome

Assembly Position
hg19 chr2:19,320,803-19,320,803 View the variant detail on this assembly version.
hg38 chr2:19,121,042-19,121,042

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.687
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
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 Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.120 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.080 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.002 breast carcinoma Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.122 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
<0.001 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
0.240 Malignant neoplasm of breast Of 41 recently discovered breast cancer susceptibility variants, associations we... BeFree 25862352 Detail
Annotation

Annotations

DescrptionSourceLinks
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail
Of 41 recently discovered breast cancer susceptibility variants, associations were found between rs1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12710696 dbSNP
Genome
hg38
Position
chr2:19,121,042-19,121,042
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))
rs12710696
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6867
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11509
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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