chr17:62502435:A>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr17:62,502,435-62,502,435
hg38 chr17:64,506,317-64,506,317 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:0.359
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 In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
0.002 breast carcinoma In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
0.001 Malignant neoplasm of breast In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
0.002 Malignant neoplasm of breast In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were sig... BeFree 21766210 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
<0.001 malignant peripheral nerve sheath tumor Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA r... BeFree 23763827 Detail
Annotation

Annotations

DescrptionSourceLinks
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
In all women, 3 SNPs (AGO1 rs595055, AGO2 rs3864659, and p68 rs1991401) were significantly associate... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
Four SNPs (DDX5 rs1991401, OR=1.79, 95% CI, 1.34-2.38, P=7.90 × 10(-5); DROSHA rs10719, OR=1.64, 95%... DisGeNET Detail
Gene
-
dbSNP
rs1991401 dbSNP
Genome
hg19
Position
chr17:62,502,435-62,502,435
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))
rs1991401
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3588
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6013
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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