chr6:31946247:T>A Detail (hg38) (CFB, C2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr6:31,914,024-31,914,024 View the variant detail on this assembly version.
hg38	chr6:31,946,247-31,946,247

HGVS

Type	Transcript	Protein
RefSeq	NM_001710.5:c.26T>A	NP_001701.2:p.Leu9His
Ensemble	ENST00000425368.7:c.26T>A	ENST00000425368.7:p.Leu9His
	ENST00000483004.2:c.26T>A	ENST00000483004.2:p.Leu9His
	ENST00000698628.1:c.26T>A	ENST00000698628.1:p.Leu9His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:0.021
	ToMMo:0.030
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:0.017

Prediction

ClinVar

Clinical Significance	Benign Likely benign
Review star
Show details

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	tgv24804382	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-09-01	no assertion criteria provided	age related macular degeneration 14	germline	Detail
Benign Likely benign	2022-09-02	criteria provided, multiple submitters, no conflicts	atypical hemolytic-uremic syndrome	germline	Detail
Likely benign	2016-06-14	criteria provided, single submitter	macular degeneration	germline	Detail
Benign Likely benign	2019-05-28	criteria provided, multiple submitters, no conflicts	complement component 2 deficiency	germline unknown	Detail
Benign	2016-03-28	criteria provided, single submitter	not specified	germline	Detail
Likely benign	2017-04-27	criteria provided, single submitter	Atypical hemolytic-uremic syndrome with B factor anomaly	germline	Detail
Benign	2024-01-29	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2022-04-25	criteria provided, single submitter	Atypical hemolytic-uremic syndrome with B factor anomaly,Complement factor b deficiency,age related macular degeneration 14	unknown	Detail
Benign	2022-04-25	criteria provided, single submitter	Atypical hemolytic-uremic syndrome with B factor anomaly,Complement factor b deficiency,age related macular degeneration 14	unknown	Detail
Benign	2022-04-25	criteria provided, single submitter	Atypical hemolytic-uremic syndrome with B factor anomaly,Complement factor b deficiency,age related macular degeneration 14	unknown	Detail
Benign	2019-07-26	criteria provided, single submitter	CFB-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	diabetes mellitus	Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas...	BeFree	24675670	Detail
<0.001	Diabetes	Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas...	BeFree	24675670	Detail
<0.001	diabetes mellitus	Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas...	BeFree	24675670	Detail
<0.001	Diabetes	Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas...	BeFree	24675670	Detail
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
0.120	MACULAR DEGENERATION, AGE-RELATED, 14	NA	CLINVAR		Detail
0.319	age related macular degeneration	We performed an association analysis between PCV and polymorphisms across the C2...	BeFree	19556007	Detail
<0.001	macular degeneration	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs...	BeFree	19899988	Detail
0.319	age related macular degeneration	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs...	BeFree	19899988	Detail
0.011	macular degeneration	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs...	BeFree	19899988	Detail
0.480	age related macular degeneration	Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs...	BeFree	19899988	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND Age related macular degeneration 14	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND Atypical hemolytic-uremic syndrome	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND Macular degeneration	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND Complement component 2 deficiency	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND not specified	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND Atypical hemolytic-uremic syndrome with B factor anomaly	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND not provided	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND multiple conditions	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND multiple conditions	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND multiple conditions	ClinVar	Detail
NM_001710.6(CFB):c.26T>A (p.Leu9His) AND CFB-related disorder	ClinVar	Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ...	DisGeNET	Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ...	DisGeNET	Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ...	DisGeNET	Detail
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ...	DisGeNET	Detail
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), r...	DisGeNET	Detail
NA	DisGeNET	Detail
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L reg...	DisGeNET	Detail
Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific...	DisGeNET	Detail
Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific...	DisGeNET	Detail
Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific...	DisGeNET	Detail
Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific...	DisGeNET	Detail

Overlapped Transcript Coordinates

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

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs4151667 dbSNP
Genome: hg38
Position: chr6:31,946,247-31,946,247
Variant Type: snv
Reference Allele: T
Alternative Allele: A
Filtering Status (HGVD): PASS
# of samples (HGVD): 1172
Mean of sample read depth (HGVD): 176.84
Standard deviation of sample read depth (HGVD): 74.28
Number of reference allele (HGVD): 2295
Number of alternative allele (HGVD): 49
Allele Frequency (HGVD): 0.020904436860068258
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)): rs4151667
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.0298
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 500
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760
East Asian Chromosome Counts (ExAC): 8520
East Asian Allele Counts (ExAC): 144
East Asian Heterozygous Counts (ExAC): 140
East Asian Homozygous Counts (ExAC): 2
East Asian Allele Frequency (ExAC): 0.016901408450704224
Chromosome Counts in All Race (ExAC): 116290
Allele Counts in All Race (ExAC): 4529
Heterozygous Counts in All Race (ExAC): 4319
Homozygous Counts in All Race (ExAC): 105
Allele Frequency in All Race (ExAC): 0.038945739100524554

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