chr6:31947158:A>G Detail (hg38) (CFB, C2)

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Information

Genome

Assembly	Position
hg19	chr6:31,914,935-31,914,935 View the variant detail on this assembly version.
hg38	chr6:31,947,158-31,947,158

Summary

Links

Type	Database	ID	Link
Gene	MIM	138470	OMIM
	HGNC	1037	HGNC
	Ensembl	ENSG00000243649	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv24804489	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2021-07-22	criteria provided, multiple submitters, no conflicts	Atypical hemolytic-uremic syndrome with B factor anomaly	germline	Detail
Benign	2016-06-14	criteria provided, single submitter	complement component 2 deficiency	germline	Detail
Benign	2016-06-14	criteria provided, single submitter	macular degeneration	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2021-07-22	criteria provided, single submitter	Complement factor b deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.292	age related macular degeneration	No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or fo...	BeFree	18806293	Detail
<0.001	diabetic retinopathy	CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which str...	BeFree	23864767	Detail

Annotation

Descrption	Source	Links
NM_001710.6(CFB):c.450A>G (p.Arg150=) AND Atypical hemolytic-uremic syndrome with B factor anomaly	ClinVar	Detail
NM_001710.6(CFB):c.450A>G (p.Arg150=) AND Complement component 2 deficiency	ClinVar	Detail
NM_001710.6(CFB):c.450A>G (p.Arg150=) AND Macular degeneration	ClinVar	Detail
NM_001710.6(CFB):c.450A>G (p.Arg150=) AND not provided	ClinVar	Detail
NM_001710.6(CFB):c.450A>G (p.Arg150=) AND Complement factor b deficiency	ClinVar	Detail
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), r...	DisGeNET	Detail
CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which strengthens the concept...	DisGeNET	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs1048709 dbSNP
Genome: hg38
Position: chr6:31,947,158-31,947,158
Variant Type: snv
Reference Allele: A
Alternative Allele: G
Filtering Status (HGVD): PASS
Filtering Status (HGVD): LowQual
# of samples (HGVD): 1192
Mean of sample read depth (HGVD): 144.72
Standard deviation of sample read depth (HGVD): 67.27
Number of reference allele (HGVD): 695
Number of alternative allele (HGVD): 1689
Allele Frequency (HGVD): 0.7084731543624161
Gene Symbol (HGVD): CFB
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)): rs1048709
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.7144
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 11974
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8496
East Asian Allele Counts (ExAC): 5918
East Asian Heterozygous Counts (ExAC): 1770
East Asian Homozygous Counts (ExAC): 2074
East Asian Allele Frequency (ExAC): 0.696563088512241
Chromosome Counts in All Race (ExAC): 116180
Allele Counts in All Race (ExAC): 96493
Heterozygous Counts in All Race (ExAC): 15595
Homozygous Counts in All Race (ExAC): 40449
Allele Frequency in All Race (ExAC): 0.8305474264072991

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