chr11:44236252:T>C Detail (hg38) (EXT2)

Information

Genome

Assembly Position
hg19 chr11:44,257,802-44,257,802 View the variant detail on this assembly version.
hg38 chr11:44,236,252-44,236,252

HGVS

Type Transcript Protein
RefSeq NM_001178083.1:c.1966-41T>C
NM_000401.3:c.1936-41T>C
NM_207122.1:c.1936-41T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.356
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.440

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 608210 OMIM
HGNC 3513 HGNC
Ensembl ENSG00000151348 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42368414 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign criteria provided, single submitter not specified germline Detail
Benign 2024-01-22 criteria provided, single submitter Exostoses, multiple, type 2 germline Detail
Benign 2015-03-03 criteria provided, single submitter not provided germline Detail
Benign 2023-07-07 criteria provided, single submitter Exostoses, multiple, type 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.083 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.314 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.452 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.296 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.341 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.181 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.057 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.032 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.176 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
0.293 Diabetes Mellitus, Non-Insulin-Dependent To examine the association of type 2 diabetes susceptibility loci and visceral f... BeFree 22377712 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_207122.2(EXT2):c.1936-41T>C AND not specified ClinVar Detail
NM_207122.2(EXT2):c.1936-41T>C AND Exostoses, multiple, type 2 ClinVar Detail
NM_207122.2(EXT2):c.1936-41T>C AND not provided ClinVar Detail
NM_207122.2(EXT2):c.1936-41T>C AND Exostoses, multiple, type 1 ClinVar Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3740878 dbSNP
Genome
hg38
Position
chr11:44,236,252-44,236,252
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))
rs3740878
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3555
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5958
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
East Asian Homozygous Counts (ExAC)
840
East Asian Chromosome Counts (ExAC)
8584
East Asian Allele Counts (ExAC)
3777
East Asian Heterozygous Counts (ExAC)
2097
East Asian Allele Frequency (ExAC)
0.440004659832246
Chromosome Counts in All Race (ExAC)
120810
Allele Counts in All Race (ExAC)
36586
Heterozygous Counts in All Race (ExAC)
23714
Homozygous Counts in All Race (ExAC)
6436
Allele Frequency in All Race (ExAC)
0.3028391689429683
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