chr7:45921046:G>C Detail (hg38) (IGFBP3)

Information

Genome

Assembly Position
hg19 chr7:45,960,645-45,960,645 View the variant detail on this assembly version.
hg38 chr7:45,921,046-45,921,046

HGVS

Type Transcript Protein
RefSeq NM_001013398.1:c.95C>G NP_001013416.1:p.Ala32Gly
Ensemble ENST00000381083.9:c.95C>G ENST00000381083.9:p.Ala32Gly
ENST00000381086.9:c.9+86C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.792
ToMMo:0.765
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.777

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 146732 OMIM
HGNC 5472 HGNC
Ensembl ENSG00000146674 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29144696 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Polyp of large intestine We examined the risk of colorectal polyps in relation to body size factors and c... BeFree 20580999 Detail
<0.001 Polyp of large intestine We examined the risk of colorectal polyps in relation to body size factors and c... BeFree 20580999 Detail
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
We examined the risk of colorectal polyps in relation to body size factors and candidate polymorphis... DisGeNET Detail
We examined the risk of colorectal polyps in relation to body size factors and candidate polymorphis... DisGeNET Detail
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

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr7:45,921,046-45,921,046
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
1030
Mean of sample read depth (HGVD)
28.47
Standard deviation of sample read depth (HGVD)
12.53
Number of reference allele (HGVD)
427
Number of alternative allele (HGVD)
1629
Allele Frequency (HGVD)
0.7923151750972762
Gene Symbol (HGVD)
IGFBP3
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))
rs2854746
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7648
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12798
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16734
East Asian Chromosome Counts (ExAC)
94
East Asian Allele Counts (ExAC)
73
East Asian Heterozygous Counts (ExAC)
19
East Asian Homozygous Counts (ExAC)
27
East Asian Allele Frequency (ExAC)
0.776595744680851
Chromosome Counts in All Race (ExAC)
5142
Allele Counts in All Race (ExAC)
2448
Heterozygous Counts in All Race (ExAC)
1438
Homozygous Counts in All Race (ExAC)
505
Allele Frequency in All Race (ExAC)
0.47607934655775963
Genome browser