chr2:27774702:T>G Detail (hg19) (SPATA31H1)

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Information

Genome

Assembly	Position
hg19	chr2:27,774,702-27,774,702
hg38	chr2:27,551,835-27,551,835 View the variant detail on this assembly version.

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000447166.3:c.145-13502T>G

Summary

Links

Type	Database	ID	Link
Gene	MIM
	HGNC	25275	HGNC
	Ensembl	ENSG00000221843	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv6252977	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, Non-Insulin-Dependent	In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp...	BeFree	21411509	Detail
0.012	Kidney Diseases	In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyp...	BeFree	21411509	Detail

Annotation

Descrption	Source	Links
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo...	DisGeNET	Detail
In 509 GAD-negative patients with newly diagnosed type 2 diabetes, we 1) genotyped six single nucleo...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2384628 dbSNP
Genome: hg19
Position: chr2:27,774,702-27,774,702
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)): rs2384628
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.8776
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 14708
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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