chr15:78615314:T>C Detail (hg38) (CHRNA3)

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Information

Genome

Assembly	Position
hg19	chr15:78,907,656-78,907,656 View the variant detail on this assembly version.
hg38	chr15:78,615,314-78,615,314

Summary

Links

Type	Database	ID	Link
Gene	MIM	118503	OMIM
	HGNC	1957	HGNC
	Ensembl	ENSG00000080644	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv53653606	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
0.020	nicotine dependence	One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined...	BeFree	22223462	Detail
0.133	nicotine dependence	One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined...	BeFree	22223462	Detail

Annotation

Descrption	Source	Links
One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined for their ability t...	DisGeNET	Detail
One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined for their ability t...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6495308 dbSNP
Genome: hg38
Position: chr15:78,615,314-78,615,314
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)): rs6495308
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7883
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 13212
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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