chr10:122454735:G>A Detail (hg38) (ARMS2)

Information

Genome

Assembly Position
hg19 chr10:124,214,251-124,214,251 View the variant detail on this assembly version.
hg38 chr10:122,454,735-122,454,735

HGVS

Type Transcript Protein
RefSeq NM_001099667.1:c.8G>A NP_001093137.1:p.Arg3His
Ensemble ENST00000528446.1:c.8G>A ENST00000528446.1:p.Arg3His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.008

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 611313 OMIM
HGNC 32685 HGNC
Ensembl ENSG00000254636 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40934396 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter age related macular degeneration 8 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
Annotation

Annotations

DescrptionSourceLinks
NM_001099667.3(ARMS2):c.8G>A (p.Arg3His) AND Age related macular degeneration 8 ClinVar 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

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
rs10490923 dbSNP
Genome
hg38
Position
chr10:122,454,735-122,454,735
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
105.47
Standard deviation of sample read depth (HGVD)
46.74
Number of reference allele (HGVD)
2418
Number of alternative allele (HGVD)
2
Allele Frequency (HGVD)
8.264462809917355E-4
Gene Symbol (HGVD)
ARMS2
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))
rs10490923
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0007
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
65
East Asian Heterozygous Counts (ExAC)
65
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.007537105751391466
Chromosome Counts in All Race (ExAC)
120676
Allele Counts in All Race (ExAC)
12876
Heterozygous Counts in All Race (ExAC)
11144
Homozygous Counts in All Race (ExAC)
866
Allele Frequency in All Race (ExAC)
0.10669892936457953
Genome browser