chr2:168906638:T>C Detail (hg38) (G6PC2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:169,763,148-169,763,148 View the variant detail on this assembly version. |
hg38 | chr2:168,906,638-168,906,638 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_021176.2:c.441-26T>C | |
NM_001081686.1:c.441-930T>C | ||
Ensemble | ENST00000375363.8:c.441-26T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.973 |
ToMMo:0.979 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.967 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
0.014 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | Diabetes Mellitus, Insulin-Dependent | The study group included 129 children with GCK-MODY from the Polish Registry of ... | BeFree | 24918535 | Detail |
0.088 | Diabetes Mellitus, Insulin-Dependent | The study group included 129 children with GCK-MODY from the Polish Registry of ... | BeFree | 24918535 | Detail |
0.125 | Metabolic syndrome X | Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lip... | GWASCAT | 22399527 | Detail |
0.003 | Impaired glucose tolerance | In this cross-sectional study, we genotyped 1505 healthy Caucasian subjects [nor... | BeFree | 20826583 | Detail |
0.125 | Metabolic syndrome X | [Our findings suggest that genes from lipid metabolism pathways have the key rol... | GAD | 22399527 | Detail |
0.003 | obesity | To explore the role of MTNR1B rs10830963 and G6PC2 rs560887 variants in the path... | BeFree | 25919927 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes a... | DisGeNET | Detail |
The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes a... | DisGeNET | Detail |
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution... | DisGeNET | Detail |
In this cross-sectional study, we genotyped 1505 healthy Caucasian subjects [normal glucose toleranc... | DisGeNET | Detail |
[Our findings suggest that genes from lipid metabolism pathways have the key role in the genetic bac... | DisGeNET | Detail |
To explore the role of MTNR1B rs10830963 and G6PC2 rs560887 variants in the pathogenesis of impaired... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg38
- Position
- chr2:168,906,638-168,906,638
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 537
- Mean of sample read depth (HGVD)
- 188.04
- Standard deviation of sample read depth (HGVD)
- 48.47
- Number of reference allele (HGVD)
- 29
- Number of alternative allele (HGVD)
- 1045
- Allele Frequency (HGVD)
- 0.972998137802607
- Gene Symbol (HGVD)
- G6PC2
- 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))
- rs560887
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9794
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16414
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 8370
- East Asian Heterozygous Counts (ExAC)
- 276
- East Asian Homozygous Counts (ExAC)
- 4047
- East Asian Allele Frequency (ExAC)
- 0.9674063800277393
- Chromosome Counts in All Race (ExAC)
- 121228
- Allele Counts in All Race (ExAC)
- 95701
- Heterozygous Counts in All Race (ExAC)
- 18825
- Homozygous Counts in All Race (ExAC)
- 38438
- Allele Frequency in All Race (ExAC)
- 0.7894298346916554
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