chr11:1999845:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:2,021,075-2,021,075 View the variant detail on this assembly version.
hg38 chr11:1,999,845-1,999,845

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.444
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
0.162 Malignant neoplasm of breast Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.166 Malignant neoplasm of breast Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.031 breast carcinoma Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.010 breast carcinoma Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.004 breast carcinoma Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.006 breast carcinoma Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.170 Malignant neoplasm of breast Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.230 Malignant neoplasm of breast Six of the previously identified SNPs showed a statistically significant associa... BeFree 22867275 Detail
0.162 Malignant neoplasm of breast Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... BeFree 20145138 Detail
0.004 breast carcinoma Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... BeFree 20145138 Detail
0.049 Malignant neoplasm of breast Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... BeFree 20145138 Detail
0.166 Malignant neoplasm of breast Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... BeFree 20145138 Detail
0.006 breast carcinoma Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... BeFree 20145138 Detail
0.009 breast carcinoma Consistent with their breast cancer associations, rs3817198 (LSP1) and rs1328161... BeFree 20145138 Detail
<0.001 ovarian carcinoma Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
<0.001 ovarian carcinoma Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
0.002 breast carcinoma Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphis... BeFree 18708391 Detail
0.008 Malignant neoplasm of breast Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphis... BeFree 18708391 Detail
<0.001 ovarian carcinoma Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
0.003 Malignant neoplasm of ovary Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
<0.001 ovarian carcinoma Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
0.003 Malignant neoplasm of ovary Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
<0.001 Malignant neoplasm of ovary Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
0.003 Malignant neoplasm of ovary Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNR... BeFree 19304784 Detail
Annotation

Annotations

DescrptionSourceLinks
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Six of the previously identified SNPs showed a statistically significant association with breast can... DisGeNET Detail
Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... DisGeNET Detail
Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... DisGeNET Detail
Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... DisGeNET Detail
Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... DisGeNET Detail
Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... DisGeNET Detail
Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associat... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphisms, we found that th... DisGeNET Detail
Among 11 Breast Cancer Association Consortium risk single-nucleotide polymorphisms, we found that th... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail
Initially, three SNPs (rs2107425 in MRPL23, rs7313833 in PTHLH, rs3803662 in TNRC9) were weakly asso... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2107425 dbSNP
Genome
hg38
Position
chr11:1,999,845-1,999,845
Variant Type
snv
Reference Allele
C
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))
rs2107425
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4442
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7444
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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