chr8:118185025:G>A Detail (hg19) (SLC30A8)

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Information

Genome

Assembly	Position
hg19	chr8:118,185,025-118,185,025
hg38	chr8:117,172,786-117,172,786 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	611145	OMIM
	HGNC	20303	HGNC
	Ensembl	ENSG00000164756	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv34460140	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
0.340	Diabetes Mellitus, Non-Insulin-Dependent	Twelve type 2 diabetes susceptibility loci identified through large-scale associ...	GWASCAT	20581827	Detail
0.340	Diabetes Mellitus, Non-Insulin-Dependent	Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAM...	GWASCAT	22693455	Detail
0.340	Diabetes Mellitus, Non-Insulin-Dependent	Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi...	GWASCAT	24509480	Detail
0.340	Diabetes Mellitus, Non-Insulin-Dependent	Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802...	BeFree	18477659	Detail
0.452	Diabetes Mellitus, Non-Insulin-Dependent	Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802...	BeFree	18477659	Detail
0.214	Diabetes Mellitus, Non-Insulin-Dependent	Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802...	BeFree	18477659	Detail
0.421	Diabetes Mellitus, Non-Insulin-Dependent	Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802...	BeFree	18477659	Detail
0.083	Diabetes Mellitus, Non-Insulin-Dependent	Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802...	BeFree	18477659	Detail
0.421	Diabetes Mellitus, Non-Insulin-Dependent	In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs50154...	BeFree	20550665	Detail

Annotation

Descrption	Source	Links
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	DisGeNET	Detail
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment fo...	DisGeNET	Detail
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di...	DisGeNET	Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)...	DisGeNET	Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)...	DisGeNET	Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)...	DisGeNET	Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)...	DisGeNET	Detail
Eight SNPs in five loci were found to be associated with type 2 diabetes: rs3802177 [odds ratio (OR)...	DisGeNET	Detail
In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SN...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3802177 dbSNP
Genome: hg19
Position: chr8:118,185,025-118,185,025
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)): rs3802177
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4341
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7275
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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