chr6:160032946:A>G Detail (hg38) (IGF2R)

Information

Genome

Assembly Position
hg19 chr6:160,453,978-160,453,978 View the variant detail on this assembly version.
hg38 chr6:160,032,946-160,032,946

HGVS

Type Transcript Protein
RefSeq NM_000876.3:c.1050A>G NP_000867.2:p.Ser350=
Ensemble ENST00000356956.6:c.1050A>G ENST00000356956.6:p.Ser350=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.717
ToMMo:0.732
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.743

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147280 OMIM
HGNC 5467 HGNC
Ensembl ENSG00000197081 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27695741 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 Metabolic syndrome X For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... BeFree 25867398 Detail
0.003 Metabolic syndrome X For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... BeFree 25867398 Detail
0.003 Metabolic syndrome X For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... BeFree 25867398 Detail
Annotation

Annotations

DescrptionSourceLinks
For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... DisGeNET Detail
For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... DisGeNET Detail
For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... 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
chr6:160,032,946-160,032,946
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1208
Mean of sample read depth (HGVD)
42.55
Standard deviation of sample read depth (HGVD)
24.81
Number of reference allele (HGVD)
683
Number of alternative allele (HGVD)
1732
Allele Frequency (HGVD)
0.7171842650103519
Gene Symbol (HGVD)
IGF2R
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))
rs1570070
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7317
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12264
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8646
East Asian Allele Counts (ExAC)
6428
East Asian Heterozygous Counts (ExAC)
1638
East Asian Homozygous Counts (ExAC)
2395
East Asian Allele Frequency (ExAC)
0.7434651862132778
Chromosome Counts in All Race (ExAC)
120174
Allele Counts in All Race (ExAC)
45097
Heterozygous Counts in All Race (ExAC)
26307
Homozygous Counts in All Race (ExAC)
9395
Allele Frequency in All Race (ExAC)
0.375264200242981
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