chr16:55735912:C>T Detail (hg19) (SLC6A2)

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Information

Genome

Assembly	Position
hg19	chr16:55,735,912-55,735,912
hg38	chr16:55,702,000-55,702,000 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	163970	OMIM
	HGNC	11048	HGNC
	Ensembl	ENSG00000103546	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv55587317	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
0.029	attention deficit hyperactivity disorder	SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-H...	BeFree	23872233	Detail
0.001	attention deficit hyperactivity disorder	Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs37465...	BeFree	23872233	Detail

Annotation

Descrption	Source	Links
SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-HT2A (rs6311) and NET...	DisGeNET	Detail
Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs3746544) is a risk factor...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs2242447 dbSNP
Genome: hg19
Position: chr16:55,735,912-55,735,912
Variant Type: snv
Reference Allele: C
Alternative Allele: T
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)): rs2242447
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.6184
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 10365
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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