chr6:160530626:T>C Detail (hg19) (IGF2R)

Information

Genome

Assembly Position
hg19 chr6:160,530,626-160,530,626
hg38 chr6:160,109,594-160,109,594 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000876.3:c.*4510T>C
Ensemble ENST00000356956.6:c.*4510T>C
ENST00000678224.1:c.*4510T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.555
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 147280 OMIM
HGNC 5467 HGNC
Ensembl ENSG00000197081 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv27699465 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
-
dbSNP
rs1479355 dbSNP
Genome
hg19
Position
chr6:160,530,626-160,530,626
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs1479355
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5547
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9297
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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