chr1:196696933:G>A Detail (hg19) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,696,933-196,696,933
hg38 chr1:196,727,803-196,727,803 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.2237-543G>A
Ensemble ENST00000695984.1:c.245-543G>A
ENST00000695981.1:c.2237-543G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.442
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 tgv4308206 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 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
0.011 macular degeneration The data suggest that the noncoding variant rs1410996 of the CFH gene moderately... BeFree 19850835 Detail
0.480 age related macular degeneration The data suggest that the noncoding variant rs1410996 of the CFH gene moderately... BeFree 19850835 Detail
0.480 age related macular degeneration CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... BeFree 23534868 Detail
0.007 macular degeneration CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... BeFree 23534868 Detail
0.005 macular degeneration CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... BeFree 23534868 Detail
0.011 macular degeneration CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... BeFree 23534868 Detail
0.267 age related macular degeneration CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... BeFree 23534868 Detail
0.404 age related macular degeneration CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms a... BeFree 23534868 Detail
0.267 age related macular degeneration Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly ass... BeFree 21906714 Detail
0.404 age related macular degeneration Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly ass... BeFree 21906714 Detail
0.480 age related macular degeneration [implicate different biologic pathways than previously reported and provide new ... GAD 20385826 Detail
0.480 age related macular degeneration Genome-wide association study of advanced age-related macular degeneration ident... GWASCAT 20385826 Detail
0.440 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) NA CLINVAR Detail
0.480 age related macular degeneration There was a possible association between LIPC and complement factor H (CFH) rs14... BeFree 21139980 Detail
0.135 age related macular degeneration There was a possible association between LIPC and complement factor H (CFH) rs14... BeFree 21139980 Detail
Annotation

Annotations

DescrptionSourceLinks
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
The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk ... DisGeNET Detail
The data suggest that the noncoding variant rs1410996 of the CFH gene moderately increased the risk ... DisGeNET Detail
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... DisGeNET Detail
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... DisGeNET Detail
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... DisGeNET Detail
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... DisGeNET Detail
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... DisGeNET Detail
CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with A... DisGeNET Detail
Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an incr... DisGeNET Detail
Variants in CFH rs1410996, ARMS2/HTRA1 A69S, and C3 R102G were significantly associated with an incr... 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
NA DisGeNET Detail
There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possibl... DisGeNET Detail
There was a possible association between LIPC and complement factor H (CFH) rs1410996, and a possibl... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1410996 dbSNP
Genome
hg19
Position
chr1:196,696,933-196,696,933
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))
rs1410996
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4416
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7401
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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