chr12:28002147:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:28,155,080-28,155,080 View the variant detail on this assembly version.
hg38 chr12:28,002,147-28,002,147

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.157
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 Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.080 breast carcinoma Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carr... BeFree 22348646 Detail
0.023 breast carcinoma Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.043 Malignant neoplasm of breast Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
0.240 Malignant neoplasm of breast Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carr... BeFree 22348646 Detail
0.121 Malignant neoplasm of breast Recent genome-wide association studies of breast cancer have identified eight ad... BeFree 22348646 Detail
Annotation

Annotations

DescrptionSourceLinks
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-... DisGeNET Detail
Recent genome-wide association studies of breast cancer have identified eight additional breast canc... DisGeNET Detail
Gene
-
dbSNP
rs10771399 dbSNP
Genome
hg38
Position
chr12:28,002,147-28,002,147
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs10771399
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1573
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2637
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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