chr1:100728649:C>T Detail (hg38) (VCAM1)

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Information

Genome

Assembly	Position
hg19	chr1:101,194,205-101,194,205 View the variant detail on this assembly version.
hg38	chr1:100,728,649-100,728,649

Summary

Links

Type	Database	ID	Link
Gene	MIM	192225	OMIM
	HGNC	12663	HGNC
	Ensembl	ENSG00000162692	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv2564147	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
0.129	Cardiovascular Diseases	Of the 170 SNPs tested, multiplicative interactions between well-water arsenic a...	BeFree	25575156	Detail
0.136	Cardiovascular Diseases	Of the 170 SNPs tested, multiplicative interactions between well-water arsenic a...	BeFree	25575156	Detail

Annotation

Descrption	Source	Links
Of the 170 SNPs tested, multiplicative interactions between well-water arsenic and two SNPs, rs28143...	DisGeNET	Detail
Of the 170 SNPs tested, multiplicative interactions between well-water arsenic and two SNPs, rs28143...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs3176867 dbSNP
Genome: hg38
Position: chr1:100,728,649-100,728,649
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)): rs3176867
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.1961
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 3286
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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