chr6:32178880:G>C Detail (hg38) (RNF5)

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Information

Genome

Assembly	Position
hg19	chr6:32,146,657-32,146,657 View the variant detail on this assembly version.
hg38	chr6:32,178,880-32,178,880

Type	Transcript	Protein
RefSeq	NM_006913.3:c.140+229G>C
Ensemble	ENST00000375094.4:c.140+229G>C

Summary

Links

Type	Database	ID	Link
Gene	MIM	602677	OMIM
	HGNC	10068	HGNC
	Ensembl	ENSG00000204308	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv24817640	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
0.007	diabetes mellitus	Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent d...	BeFree	24742661	Detail
0.003	Diabetes	Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent d...	BeFree	24742661	Detail

Annotation

Descrption	Source	Links
Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070...	DisGeNET	Detail
Three SNPs of AGER, previously associated with HLA-DR/DQ haplotype independent diabetes risk (rs2070...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs9469089 dbSNP
Genome: hg38
Position: chr6:32,178,880-32,178,880
Variant Type: snv
Reference Allele: G
Alternative Allele: C
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)): rs9469089
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1463
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 2452
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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