chr8:117173494:A>G Detail (hg38) (SLC30A8)

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Information

Genome

Assembly	Position
hg19	chr8:118,185,733-118,185,733 View the variant detail on this assembly version.
hg38	chr8:117,173,494-117,173,494

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	tgv34460154	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	[Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits...	GAD	21873549	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
[Two loci (LARP6 and SGSM2) have not been previously related to metabolic traits, one (MADD) has bee...	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: rs11558471 dbSNP
Genome: hg38
Position: chr8:117,173,494-117,173,494
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)): rs11558471
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.4437
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 7437
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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