chr5:44875005:A>C Detail (hg19)

Information

Genome

Assembly Position
hg19 chr5:44,875,005-44,875,005
hg38 chr5:44,874,903-44,874,903 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.554
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 Mammary Neoplasms Further, we showed the rs7716600 risk genotype was associated with decreased MRP... BeFree 24388359 Detail
0.010 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.006 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.166 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.031 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.230 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.170 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.240 Malignant neoplasm of breast In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
0.080 breast carcinoma In the validation study using Stage I of the 2,273 cases and 2,052 controls, sev... BeFree 22452962 Detail
Annotation

Annotations

DescrptionSourceLinks
Further, we showed the rs7716600 risk genotype was associated with decreased MRPS30 promoter methyla... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified l... DisGeNET Detail
Gene
-
dbSNP
rs7716600 dbSNP
Genome
hg19
Position
chr5:44,875,005-44,875,005
Variant Type
snv
Reference Allele
A
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))
rs7716600
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5544
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9292
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser