chr16:11238783:G>A Detail (hg19) (CLEC16A)

Information

Genome

Assembly Position
hg19 chr16:11,238,783-11,238,783
hg38 chr16:11,144,926-11,144,926 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_015226.2:c.2641+18780G>A
Ensemble ENST00000703130.1:c.2635+18780G>A
ENST00000409790.6:c.2641+18780G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.176
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 611303 OMIM
HGNC 29013 HGNC
Ensembl ENSG00000038532 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv54734695 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
0.002 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
0.281 Diabetes Mellitus, Insulin-Dependent [A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.] GAD 17632545 Detail
0.006 rheumatoid arthritis The effect of the MHC2TA rs3087456G/rs4774C haplotype on RA susceptibility was c... BeFree 19221398 Detail
0.281 Diabetes Mellitus, Insulin-Dependent [Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4... GAD 18940880 Detail
<0.001 Diabetes The effect of rs2903692 previously described in diabetes was observed specifical... BeFree 19337309 Detail
0.282 multiple sclerosis Independent genome-wide association studies highlighted the function of CLEC16A/... BeFree 19337309 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Independent genome-wide association studies highlighted the function of CLEC16A/... BeFree 19337309 Detail
0.002 Diabetes Mellitus, Non-Insulin-Dependent [These results suggest that individuals with increased genetic susceptibility to... GAD 20203524 Detail
0.281 Diabetes Mellitus, Insulin-Dependent A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. GWASCAT 17632545 Detail
<0.001 diabetes mellitus The effect of rs2903692 previously described in diabetes was observed specifical... BeFree 19337309 Detail
Annotation

Annotations

DescrptionSourceLinks
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
[A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.] DisGeNET Detail
The effect of the MHC2TA rs3087456G/rs4774C haplotype on RA susceptibility was confirmed, and the ha... DisGeNET Detail
[Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs... DisGeNET Detail
The effect of rs2903692 previously described in diabetes was observed specifically for Crohn's disea... DisGeNET Detail
Independent genome-wide association studies highlighted the function of CLEC16A/KIAA0350 polymorphis... DisGeNET Detail
Independent genome-wide association studies highlighted the function of CLEC16A/KIAA0350 polymorphis... DisGeNET Detail
[These results suggest that individuals with increased genetic susceptibility to T2D have decreased ... DisGeNET Detail
A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. DisGeNET Detail
The effect of rs2903692 previously described in diabetes was observed specifically for Crohn's disea... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2903692 dbSNP
Genome
hg19
Position
chr16:11,238,783-11,238,783
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))
rs2903692
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1761
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2952
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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