chr16:11086016:A>G Detail (hg38) (CLEC16A)

Information

Genome

Assembly Position
hg19 chr16:11,179,873-11,179,873 View the variant detail on this assembly version.
hg38 chr16:11,086,016-11,086,016

HGVS

Type Transcript Protein
RefSeq NM_001243403.1:c.2062+24994A>G
NM_015226.2:c.2116+24994A>G
Ensemble ENST00000409552.4:c.2062+24994A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.171
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 tgv54732943 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
0.019 multiple sclerosis Two of these seven SNPs showed evidence of association with multiple sclerosis; ... BeFree 18987646 Detail
0.281 Diabetes Mellitus, Insulin-Dependent [Genome-wide association study and meta-analysis find that over 40 loci affect r... GAD 19430480 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Robust associations of four new chromosome regions from genome-wide analyses of ... GWASCAT 17554260 Detail
0.281 Diabetes Mellitus, Insulin-Dependent [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... GAD 21829393 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Meta-analysis of genome-wide association study data identifies additional type 1... GWASCAT 18978792 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Genome-wide association study and meta-analysis find that over 40 loci affect ri... GWASCAT 19430480 Detail
0.281 Diabetes Mellitus, Insulin-Dependent Genome-wide association study of 14,000 cases of seven common diseases and 3,000... GWASCAT 17554300 Detail
0.282 multiple sclerosis Two of these seven SNPs showed evidence of association with multiple sclerosis; ... BeFree 18987646 Detail
Annotation

Annotations

DescrptionSourceLinks
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... DisGeNET Detail
[Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabet... DisGeNET Detail
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. DisGeNET Detail
[Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] DisGeNET Detail
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. DisGeNET Detail
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... DisGeNET Detail
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. DisGeNET Detail
Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12708716 dbSNP
Genome
hg38
Position
chr16:11,086,016-11,086,016
Variant Type
snv
Reference Allele
A
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))
rs12708716
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.171
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2866
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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