chr16:11075826:T>G Detail (hg38) (CLEC16A)

Information

Genome

Assembly Position
hg19 chr16:11,169,683-11,169,683 View the variant detail on this assembly version.
hg38 chr16:11,075,826-11,075,826

HGVS

Type Transcript Protein
RefSeq NM_001243403.1:c.2062+14804T>G
NM_015226.2:c.2116+14804T>G
Ensemble ENST00000409552.4:c.2062+14804T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.183
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 tgv54732681 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, Insulin-Dependent Three variants were found to be significantly associated with type 1 diabetes (T... BeFree 23922971 Detail
0.293 Diabetes Mellitus, Insulin-Dependent Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protecti... BeFree 23922971 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protecti... BeFree 23922971 Detail
Annotation

Annotations

DescrptionSourceLinks
Three variants were found to be significantly associated with type 1 diabetes (T1D): NLRP1 rs1215022... DisGeNET Detail
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, w... DisGeNET Detail
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, w... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs725613 dbSNP
Genome
hg38
Position
chr16:11,075,826-11,075,826
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs725613
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1825
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3058
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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