chr6:31919578:A>G Detail (hg19) (CFB)

Information

Genome

Assembly Position
hg19 chr6:31,919,578-31,919,578
hg38 chr6:31,951,801-31,951,801 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001710.5:c.2140-74A>G
Ensemble ENST00000425368.7:c.2140-74A>G
ENST00000483004.2:c.1924-74A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.514
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance 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 tgv24805085 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, single submitter Complement factor b deficiency germline Detail
Benign 2021-07-22 criteria provided, single submitter Atypical hemolytic-uremic syndrome with B factor anomaly germline Detail
Benign 2018-11-10 criteria provided, single submitter not provided 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
0.002 multiple sclerosis [Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritab... GAD 17660530 Detail
0.005 multiple sclerosis [Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritab... GAD 17660530 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001710.6(CFB):c.2140-74A>G AND Complement factor b deficiency ClinVar Detail
NM_001710.6(CFB):c.2140-74A>G AND Atypical hemolytic-uremic syndrome with B factor anomaly ClinVar Detail
NM_001710.6(CFB):c.2140-74A>G AND not provided ClinVar Detail
No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), r... DisGeNET Detail
[Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for ... DisGeNET Detail
[Alleles of IL2RA and IL7RA and those in the HLA locus are identified as heritable risk factors for ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2072633 dbSNP
Genome
hg19
Position
chr6:31,919,578-31,919,578
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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))
rs2072633
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5142
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8618
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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