chr6:31951083:A>G Detail (hg38) (CFB)

Information

Genome

Assembly Position
hg19 chr6:31,918,860-31,918,860 View the variant detail on this assembly version.
hg38 chr6:31,951,083-31,951,083

HGVS

Type Transcript Protein
RefSeq NM_001710.5:c.1856-61A>G
Ensemble ENST00000425368.7:c.1856-61A>G
ENST00000483004.2:c.1640-61A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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 tgv259842193 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-18 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.134 Lupus Erythematosus, Systemic NA GAD Detail
0.004 Lupus Erythematosus, Discoid Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.235 Lupus Erythematosus, Systemic Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.004 Lupus Vulgaris Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
0.012 Diabetes Mellitus, Insulin-Dependent NA GAD Detail
0.134 Lupus Erythematosus, Systemic [We identified and then confirmed through replication two new genetic loci for S... GAD 18204098 Detail
0.018 lupus erythematosus Importantly, our data suggest that in patients with lupus, the presence of the H... BeFree 21952918 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001710.6(CFB):c.1856-61A>G AND not provided ClinVar Detail
NA DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail
NA DisGeNET Detail
[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... DisGeNET Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1270942 dbSNP
Genome
hg38
Position
chr6:31,951,083-31,951,083
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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