chr11:2157044:C>G Detail (hg19) (IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,157,044-2,157,044
hg38 chr11:2,135,814-2,135,814 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001127598.2:c.163-285G>C
NM_001291862.2:c.-6-285G>C
NM_001291861.2:c.-6-285G>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.308
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 tgv41351755 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
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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3213221 dbSNP
Genome
hg19
Position
chr11:2,157,044-2,157,044
Variant Type
snv
Reference Allele
C
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))
rs3213221
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3077
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5156
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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