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
Links
Type Database ID Link
Gene MIM 608058 OMIM
HGNC 28906 HGNC
Ensembl ENSG00000152254 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9422256 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 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

DescrptionSourceLinks
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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