chr1:103393457:C>T Detail (hg19) (COL11A1)

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Information

Genome

Assembly	Position
hg19	chr1:103,393,457-103,393,457
hg38	chr1:102,927,901-102,927,901 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	120280	OMIM
	HGNC	2186	HGNC
	Ensembl	ENSG00000060718	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv2610966	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
0.120	Angle Closure Glaucoma	Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 ...	BeFree	24854855	Detail
0.120	Angle Closure Glaucoma	Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 ...	BeFree	24854855	Detail

Annotation

Descrption	Source	Links
Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PL...	DisGeNET	Detail
Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PL...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs12138977 dbSNP
Genome: hg19
Position: chr1:103,393,457-103,393,457
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)): rs12138977
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7029
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 11781
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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