chr1:196682947:G>C Detail (hg19) (CFH)

Information

Genome

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

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.1419G>C NP_000177.2:p.Ala473=
Ensemble ENST00000695976.1:c.1230G>C ENST00000695976.1:p.Ala410=
ENST00000695970.1:c.1419G>C ENST00000695970.1:p.Ala473=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance risk factor
Review star
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2006-09-01 no assertion criteria provided age related macular degeneration 4 germline Detail
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
NM_000186.4(CFH):c.1419G>C (p.Ala473=) AND Age related macular degeneration 4 ClinVar 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
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
-
dbSNP
rs2274700 dbSNP
Genome
hg19
Position
chr1:196,682,947-196,682,947
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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