chr11:2152217:T>G Detail (hg38) (IGF2, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,173,447-2,173,447 View the variant detail on this assembly version.
hg38 chr11:2,152,217-2,152,217

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000481781.3:c.-468-2872A>C
Type Transcript Protein
RefSeq NM_001042376.2:c.188-2872A>C
Ensemble ENST00000397270.1:c.188-2872A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.503
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
Type Database ID Link
Gene MIM 147470 OMIM
HGNC 5466 HGNC
Ensembl ENSG00000167244 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41352530 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 33527 HGNC
Ensembl ENSG00000129965 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41352530 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 Muscle damage The most significant finding in this study was that for men, IGF-II (C13790G, rs... BeFree 17289909 Detail
<0.001 Muscle damage The most significant finding in this study was that for men, IGF-II (C13790G, rs... BeFree 17289909 Detail
<0.001 Myalgia We found that men who were 1) homozygous for the rare IGF-II C13790G allele and ... BeFree 17289909 Detail
<0.001 Myalgia We found that men who were 1) homozygous for the rare IGF-II C13790G allele and ... BeFree 17289909 Detail
<0.001 Sore to touch We found that men who were 1) homozygous for the rare IGF-II C13790G allele and ... BeFree 17289909 Detail
<0.001 Myalgia We found that men who were 1) homozygous for the rare IGF-II C13790G allele and ... BeFree 17289909 Detail
<0.001 Sore to touch We found that men who were 1) homozygous for the rare IGF-II C13790G allele and ... BeFree 17289909 Detail
Annotation

Annotations

DescrptionSourceLinks
The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (Ap... DisGeNET Detail
The most significant finding in this study was that for men, IGF-II (C13790G, rs3213221), IGF-II (Ap... DisGeNET Detail
We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ... DisGeNET Detail
We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ... DisGeNET Detail
We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ... DisGeNET Detail
We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ... DisGeNET Detail
We found that men who were 1) homozygous for the rare IGF-II C13790G allele and rare allele for the ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7924316 dbSNP
Genome
hg38
Position
chr11:2,152,217-2,152,217
Variant Type
snv
Reference Allele
T
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))
rs7924316
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5028
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8426
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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