ARMS2 age-related maculopathy susceptibility 2

Information
Symbol
ARMS2
Type
protein-coding
Description
age-related maculopathy susceptibility 2
Entrez Gene ID
387715
Genome
hg19
Position
chr10:124,214,169-124,216,868
Genome
hg38
Position
chr10:122,454,653-122,457,352
MIM
611313 OMIM
HGNC
HGNC:32685 HGNC
Ensembl
ENSG00000254636 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 18
Likely benign 0 26
not provided 0 2
risk factor 0 2
Uncertain significance 0 24
Ranking
ClinVar
0
0
4
52
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ARMD8
MIM 611313 OMIM
HGNC HGNC:32685 HGNC
Ensembl ENSG00000254636 Ensembl
AllianceGenome HGNC:32685
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000528446.1 hg38 chr10 122,454,653 122,457,352 2,700
ENST00000528446.1 hg19 chr10 124,214,169 124,216,868 2,700
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