chr11:2160994:A>T Detail (hg38) (INS, TH, INS-IGF2)

Information

Genome

Assembly Position
hg19 chr11:2,182,224-2,182,224 View the variant detail on this assembly version.
hg38 chr11:2,160,994-2,160,994

HGVS

Type Transcript Protein
RefSeq NM_000207.2:c.-17-6T>A
NM_001185097.1:c.-17-6T>A
NM_001185098.1:c.-23T>A
Type Transcript Protein
RefSeq NM_001042376.2:c.-17-6T>A
Ensemble ENST00000397270.1:c.-17-6T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.971
ToMMo:0.968
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.954

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 176730 OMIM
HGNC 6081 HGNC
Ensembl ENSG00000254647 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41352905 TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 33527 HGNC
Ensembl ENSG00000129965 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41352905 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Transient Neonatal Diabetes, Dominant/Recessive germline Detail
Benign 2016-06-14 criteria provided, single submitter Autosomal recessive DOPA responsive dystonia germline Detail
Benign 2016-06-14 criteria provided, single submitter Maturity onset diabetes mellitus in young germline Detail
Benign 2017-08-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2018-01-12 criteria provided, single submitter maturity-onset diabetes of the young type 10 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.004 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.005 Diabetes The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 Diabetes The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.088 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.089 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
<0.001 diabetes mellitus The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.330 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.010 Diabetes Mellitus, Non-Insulin-Dependent The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.005 diabetes mellitus The aim of our study was to investigate whether common polymorphisms in the gene... BeFree 15127203 Detail
0.293 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.371 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.084 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
<0.001 Diabetes Mellitus, Insulin-Dependent A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... BeFree 25964488 Detail
0.002 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
<0.001 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
0.016 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
<0.001 Autoimmune thyroid disease Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... BeFree 18940880 Detail
0.023 diabetes mellitus One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.026 diabetes mellitus One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.250 Diabetes Mellitus, Insulin-Dependent One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.011 Diabetes One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.080 Diabetes One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.010 Diabetes One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.002 diabetes mellitus One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.004 diabetes mellitus One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.295 diabetes mellitus One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.004 Diabetes One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
0.001 Diabetes One hundred and one children with type 1 diabetes and 160 healthy controls from ... BeFree 25256132 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000207.3(INS):c.-17-6T>A AND Transient Neonatal Diabetes, Dominant/Recessive ClinVar Detail
NM_000207.3(INS):c.-17-6T>A AND Autosomal recessive DOPA responsive dystonia ClinVar Detail
NM_000207.3(INS):c.-17-6T>A AND Maturity onset diabetes mellitus in young ClinVar Detail
NM_000207.3(INS):c.-17-6T>A AND not provided ClinVar Detail
NM_000207.3(INS):c.-17-6T>A AND Maturity-onset diabetes of the young type 10 ClinVar Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... DisGeNET Detail
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... 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
rs689 dbSNP
Genome
hg38
Position
chr11:2,160,994-2,160,994
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
826
Mean of sample read depth (HGVD)
26.34
Standard deviation of sample read depth (HGVD)
14.33
Number of reference allele (HGVD)
48
Number of alternative allele (HGVD)
1604
Allele Frequency (HGVD)
0.9709443099273608
Gene Symbol (HGVD)
INS
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))
rs689
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.968
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16221
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Chromosome Counts (ExAC)
8478
East Asian Allele Counts (ExAC)
8084
East Asian Heterozygous Counts (ExAC)
380
East Asian Homozygous Counts (ExAC)
3852
East Asian Allele Frequency (ExAC)
0.9535267751828261
Chromosome Counts in All Race (ExAC)
115618
Allele Counts in All Race (ExAC)
84031
Heterozygous Counts in All Race (ExAC)
20459
Homozygous Counts in All Race (ExAC)
31786
Allele Frequency in All Race (ExAC)
0.7267985953744227
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