chr1:169700502:T>C Detail (hg19) (SELE)

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Information

Genome

Assembly	Position
hg19	chr1:169,700,502-169,700,502
hg38	chr1:169,731,361-169,731,361 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	131210	OMIM
	HGNC	10718	HGNC
	Ensembl	ENSG00000007908	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv3716190	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
<0.001	Recurrent tumor	Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serv...	BeFree	24980946	Detail
<0.001	intestinal perforation	The combination of the selectin E (SELE) rs3917412 G>A G/G and the methylente...	BeFree	24980946	Detail

Annotation

Descrption	Source	Links
Our findings suggest that the SELE rs3917412 and MTHFR rs1801133 SNPs could serve as pharmacogenetic...	DisGeNET	Detail
The combination of the selectin E (SELE) rs3917412 G>A G/G and the methylentetrahydrofolate reduc...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3917412 dbSNP
Genome: hg19
Position: chr1:169,700,502-169,700,502
Variant Type: snv
Reference Allele: T
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)): rs3917412
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.735
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 12318
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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