chr7:45962463:T>G Detail (hg19)

Information

Genome

Assembly Position
hg19 chr7:45,962,463-45,962,463
hg38 chr7:45,922,864-45,922,864 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.776
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
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
Gene
-
dbSNP
rs2132570 dbSNP
Genome
hg19
Position
chr7:45,962,463-45,962,463
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))
rs2132570
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7765
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13013
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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