chr6:31946403:G>A Detail (hg38) (CFB, C2)

Information

Genome

Assembly Position
hg19 chr6:31,914,180-31,914,180 View the variant detail on this assembly version.
hg38 chr6:31,946,403-31,946,403

HGVS

Type Transcript Protein
RefSeq NM_001710.5:c.95G>A NP_001701.2:p.Arg32Gln
Ensemble ENST00000425368.7:c.95G>A ENST00000425368.7:p.Arg32Gln
ENST00000483004.2:c.95G>A ENST00000483004.2:p.Arg32Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.086
ToMMo:0.096
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.064

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 tgv24804396 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 1994-01-01 no assertion criteria provided germline Detail
Benign 2017-10-30 no assertion criteria provided germline Detail
protective 2016-08-12 no assertion criteria provided age related macular degeneration 14 germline Detail
Benign 2016-06-14 criteria provided, single submitter atypical hemolytic-uremic syndrome germline Detail
Likely benign 2016-06-14 criteria provided, single submitter complement component 2 deficiency germline Detail
Benign Likely benign 2016-06-14 criteria provided, single submitter macular degeneration germline Detail
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
Benign 2017-04-27 criteria provided, single submitter Atypical hemolytic-uremic syndrome with B factor anomaly germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2022-09-27 criteria provided, single submitter germline Detail
Benign 2022-04-22 criteria provided, single submitter complement component 2 deficiency,age related macular degeneration 14 unknown Detail
Benign 2022-04-22 criteria provided, single submitter complement component 2 deficiency,age related macular degeneration 14 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.319 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.480 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.021 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.005 age related macular degeneration Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... BeFree 23582991 Detail
0.404 age related macular degeneration Allele and genotype frequencies of single nucleotide polymorphisms for the follo... BeFree 19001225 Detail
0.319 age related macular degeneration Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and ... BeFree 21169531 Detail
0.267 age related macular degeneration Allele and genotype frequencies of single nucleotide polymorphisms for the follo... BeFree 19001225 Detail
0.404 age related macular degeneration Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and ... BeFree 21169531 Detail
0.319 age related macular degeneration Allele and genotype frequencies of single nucleotide polymorphisms for the follo... BeFree 19001225 Detail
0.319 age related macular degeneration We performed an association analysis between PCV and polymorphisms across the C2... BeFree 19556007 Detail
<0.001 Drusen The CFB (R32Q) polymorphism was associated with AMD characterized by small druse... BeFree 23373431 Detail
0.319 age related macular degeneration [implicate different biologic pathways than previously reported and provide new ... GAD 20385826 Detail
0.319 age related macular degeneration Genome-wide association study of advanced age-related macular degeneration ident... GWASCAT 20385826 Detail
0.319 age related macular degeneration [The significant association is retained following multivariate analysis with ad... GAD 20157618 Detail
0.319 age related macular degeneration Heritability and genome-wide association study to assess genetic differences bet... GWASCAT 22705344 Detail
0.319 age related macular degeneration Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rela... GWASCAT 21665990 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

DescrptionSourceLinks
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Factor B fast/slow polymorphism ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND BF*FA/S ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Age related macular degeneration 14 ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Atypical hemolytic-uremic syndrome ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Complement component 2 deficiency ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Macular degeneration ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND not specified ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Atypical hemolytic-uremic syndrome with B factor anomaly ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND not provided ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND Focal segmental glomerulosclerosis ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND multiple conditions ClinVar Detail
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND multiple conditions ClinVar Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... DisGeNET Detail
Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... DisGeNET Detail
Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and C3 R102G have been s... DisGeNET Detail
Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... DisGeNET Detail
Cigarette smoking and the genetic variants CFH Y402H, ARMS2 A69S, CFB R32Q, and C3 R102G have been s... DisGeNET Detail
Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... DisGeNET Detail
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L reg... DisGeNET Detail
The CFB (R32Q) polymorphism was associated with AMD characterized by small drusen only, and appeared... DisGeNET Detail
[implicate different biologic pathways than previously reported and provide new avenues for preventi... DisGeNET Detail
Genome-wide association study of advanced age-related macular degeneration identifies a role of the ... DisGeNET Detail
[The significant association is retained following multivariate analysis with adjustment for age, sm... DisGeNET Detail
Heritability and genome-wide association study to assess genetic differences between advanced age-re... DisGeNET Detail
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenera... 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
rs641153 dbSNP
Genome
hg38
Position
chr6:31,946,403-31,946,403
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1171
Mean of sample read depth (HGVD)
83.89
Standard deviation of sample read depth (HGVD)
37.99
Number of reference allele (HGVD)
2141
Number of alternative allele (HGVD)
201
Allele Frequency (HGVD)
0.08582408198121264
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))
rs641153
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0964
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1615
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8516
East Asian Allele Counts (ExAC)
543
East Asian Heterozygous Counts (ExAC)
485
East Asian Homozygous Counts (ExAC)
29
East Asian Allele Frequency (ExAC)
0.06376232973226867
Chromosome Counts in All Race (ExAC)
116212
Allele Counts in All Race (ExAC)
11428
Heterozygous Counts in All Race (ExAC)
10042
Homozygous Counts in All Race (ExAC)
693
Allele Frequency in All Race (ExAC)
0.09833752108216019
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