chr17:17471175:G>A Detail (hg19) (PEMT)

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Information

Genome

Assembly	Position
hg19	chr17:17,471,175-17,471,175
hg38	chr17:17,567,861-17,567,861 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	602391	OMIM
	HGNC	8830	HGNC
	Ensembl	ENSG00000133027	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv57241229	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
0.094	Diabetes Mellitus, Non-Insulin-Dependent	MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high...	BeFree	25074646	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high...	BeFree	25074646	Detail

Annotation

Descrption	Source	Links
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in the...	DisGeNET	Detail
MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in the...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs4646356 dbSNP
Genome: hg19
Position: chr17:17,471,175-17,471,175
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)): rs4646356
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3043
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5100
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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