chr1:196710325:A>C Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,679,455-196,679,455 View the variant detail on this assembly version.
hg38 chr1:196,710,325-196,710,325

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.1337-3410A>C
Ensemble ENST00000367429.9:c.1337-3410A>C
ENST00000695969.1:c.1337-3410A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.444
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 tgv4307617 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
0.131 Exudative age-related macular degeneration New loci and coding variants confer risk for age-related macular degeneration in... GWASCAT 25629512 Detail
0.480 age related macular degeneration Seven new loci associated with age-related macular degeneration. GWASCAT 23455636 Detail
0.480 age related macular degeneration Our results validate AMD susceptibility loci near CFH (P < 10(-75)), ARMS2 (P... GWASCAT 20385819 Detail
Annotation

Annotations

DescrptionSourceLinks
New loci and coding variants confer risk for age-related macular degeneration in East Asians. DisGeNET Detail
Seven new loci associated with age-related macular degeneration. DisGeNET Detail
Our results validate AMD susceptibility loci near CFH (P < 10(-75)), ARMS2 (P < 10(-59)), C2/C... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs10737680 dbSNP
Genome
hg38
Position
chr1:196,710,325-196,710,325
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs10737680
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4439
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7440
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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