chr2:240591757:G>A Detail (hg38) (CAPN10)

Information

Genome

Assembly Position
hg19 chr2:241,531,174-241,531,174 View the variant detail on this assembly version.
hg38 chr2:240,591,757-240,591,757

HGVS

Type Transcript Protein
RefSeq NM_023085.3:c.471-176G>A
NM_023083.3:c.471-176G>A
Ensemble ENST00000270364.11:c.273+2283G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.055
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 605286 OMIM
HGNC 1477 HGNC
Ensembl ENSG00000142330 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11110835 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2004-07-01 no assertion criteria provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.627 Diabetes Mellitus, Non-Insulin-Dependent We replicated the significant association of rs1801278 and rs3792267 SNPs of the... BeFree 24612564 Detail
0.447 Diabetes Mellitus, Non-Insulin-Dependent NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_023083.4(CAPN10):c.471-176G>A AND Type 2 diabetes mellitus 1, susceptibility to ClinVar Detail
We replicated the significant association of rs1801278 and rs3792267 SNPs of the IRS1 and CAPN10 gen... DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3792267 dbSNP
Genome
hg38
Position
chr2:240,591,757-240,591,757
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs3792267
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0553
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
927
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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