chr1:196717788:G>A Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,686,918-196,686,918 View the variant detail on this assembly version.
hg38 chr1:196,717,788-196,717,788

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.1696+2019G>A
Ensemble ENST00000367429.9:c.1696+2019G>A
ENST00000695969.1:c.1696+2019G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.049
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 134370 OMIM
HGNC 4883 HGNC
Ensembl ENSG00000000971 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4307874 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Lupus Erythematosus, Systemic Significant allelic associations with SLE were detected in European Americans (E... BeFree 21637784 Detail
<0.001 Lupus Erythematosus, Systemic Significant allelic associations with SLE were detected in European Americans (E... BeFree 21637784 Detail
0.127 IgA glomerulonephritis [Genome-wide association study identifies susceptibility loci for IgA nephropath... GAD 21399633 Detail
0.127 IgA glomerulonephritis Discovery of new risk loci for IgA nephropathy implicates genes involved in immu... GWASCAT 25305756 Detail
0.127 IgA glomerulonephritis Our recent genome-wide association study of IgAN identified susceptibility loci ... BeFree 25205734 Detail
0.122 Kidney Diseases Genome-wide association study identifies susceptibility loci for IgA nephropathy... GWASCAT 21399633 Detail
Annotation

Annotations

DescrptionSourceLinks
Significant allelic associations with SLE were detected in European Americans (EA) and African Ameri... DisGeNET Detail
Significant allelic associations with SLE were detected in European Americans (EA) and African Ameri... DisGeNET Detail
[Genome-wide association study identifies susceptibility loci for IgA nephropathy.] DisGeNET Detail
Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intesti... DisGeNET Detail
Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing t... DisGeNET Detail
Genome-wide association study identifies susceptibility loci for IgA nephropathy. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs6677604 dbSNP
Genome
hg38
Position
chr1:196,717,788-196,717,788
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs6677604
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0485
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
813
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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