chr11:77096039:G>A Detail (hg38) (CAPN5)

Information

Genome

Assembly Position
hg19 chr11:76,807,085-76,807,085 View the variant detail on this assembly version.
hg38 chr11:77,096,039-77,096,039

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000456580.6:c.417+2226G>A
ENST00000529629.5:c.297+2226G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602537 OMIM
HGNC 1482 HGNC
Ensembl ENSG00000149260 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv374195330 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
0.393 Diabetes Mellitus, Non-Insulin-Dependent Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 ... BeFree 24280871 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 ... BeFree 24280871 Detail
0.564 Diabetes Mellitus, Non-Insulin-Dependent Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 ... BeFree 24280871 Detail
Annotation

Annotations

DescrptionSourceLinks
Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B ... DisGeNET Detail
Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B ... DisGeNET Detail
Nominal interactions were observed for sleep duration and PPARG rs1801282, CRY2 rs7943320 and HNF1B ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7943320 dbSNP
Genome
hg38
Position
chr11:77,096,039-77,096,039
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser