chr11:45851540:A>C Detail (hg38) (CRY2)

Information

Genome

Assembly Position
hg19 chr11:45,873,091-45,873,091 View the variant detail on this assembly version.
hg38 chr11:45,851,540-45,851,540

HGVS

Type Transcript Protein
RefSeq NM_001127457.2:c.32+4259A>C
NM_021117.3:c.278+3835A>C
Ensemble ENST00000417225.6:c.32+4259A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.174
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603732 OMIM
HGNC 2385 HGNC
Ensembl ENSG00000121671 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42405974 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
0.006 Diabetes Mellitus, Non-Insulin-Dependent The A-allele of CRY2-rs11605924 was moderately associated with increased risk of... BeFree 21747906 Detail
0.124 obesity The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were geno... BeFree 24335056 Detail
<0.001 Overweight The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were geno... BeFree 24335056 Detail
<0.001 Overweight The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were geno... BeFree 24335056 Detail
0.003 obesity The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were geno... BeFree 24335056 Detail
Annotation

Annotations

DescrptionSourceLinks
The A-allele of CRY2-rs11605924 was moderately associated with increased risk of combined IFG/type 2... DisGeNET Detail
The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were genotyped in overweight ... DisGeNET Detail
The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were genotyped in overweight ... DisGeNET Detail
The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were genotyped in overweight ... DisGeNET Detail
The variants CRY2 rs11605924 (n = 721) and MTNR1B rs10830963 (n = 722) were genotyped in overweight ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11605924 dbSNP
Genome
hg38
Position
chr11:45,851,540-45,851,540
Variant Type
snv
Reference Allele
A
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))
rs11605924
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.174
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2916
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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