chr12:32215232:A>G Detail (hg38) (BICD1)

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Information

Genome

Assembly	Position
hg19	chr12:32,368,166-32,368,166 View the variant detail on this assembly version.
hg38	chr12:32,215,232-32,215,232

Summary

Links

Type	Database	ID	Link
Gene	MIM	602204	OMIM
	HGNC	1049	HGNC
	Ensembl	ENSG00000151746	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv45444640	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
0.003	pulmonary emphysema	The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167...	BeFree	25154699	Detail
<0.001	pulmonary emphysema	The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167...	BeFree	25154699	Detail

Annotation

Descrption	Source	Links
The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs1619...	DisGeNET	Detail
The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs1619...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs161976 dbSNP
Genome: hg38
Position: chr12:32,215,232-32,215,232
Variant Type: snv
Reference Allele: A
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)): rs161976
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7861
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 13175
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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