chr1:196713817:G>T Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,682,947-196,682,947 View the variant detail on this assembly version.
hg38 chr1:196,713,817-196,713,817

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.1419G>T NP_000177.2:p.Ala473=
Ensemble ENST00000367429.9:c.1419G>T ENST00000367429.9:p.Ala473=
ENST00000695969.1:c.1419G>T ENST00000695969.1:p.Ala473=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
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 tgv4307709 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
0.319 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
0.002 Hypertensive disease Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P... BeFree 22848687 Detail
0.002 Hypertensive disease Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P... BeFree 22848687 Detail
0.021 age related macular degeneration We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... BeFree 22848687 Detail
0.480 age related macular degeneration We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... BeFree 22848687 Detail
0.440 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P = 8×10(-5)) and hyp... DisGeNET Detail
Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P = 8×10(-5)) and hyp... DisGeNET Detail
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... DisGeNET Detail
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... DisGeNET Detail
NA 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
-
Genome
hg38
Position
chr1:196,713,817-196,713,817
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1059
Mean of sample read depth (HGVD)
59.77
Standard deviation of sample read depth (HGVD)
24.65
Number of reference allele (HGVD)
1155
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
8.650519031141869E-4
Gene Symbol (HGVD)
CFH
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