chr12:102358184:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr12:102,751,962-102,751,962 View the variant detail on this assembly version.
hg38 chr12:102,358,184-102,358,184

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.198
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 Malignant neoplasm of ovary When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... BeFree 19858071 Detail
0.001 ovarian carcinoma When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and... BeFree 19858071 Detail
Annotation

Annotations

DescrptionSourceLinks
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... DisGeNET Detail
When evaluated individually, three SNPs in the IGFBPs (rs10228265, rs4988515 and rs2270628) were ass... DisGeNET Detail
Gene
-
dbSNP
rs1996656 dbSNP
Genome
hg38
Position
chr12:102,358,184-102,358,184
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))
rs1996656
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1979
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3316
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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