chr10:124215315:T>G Detail (hg19) (ARMS2)

Information

Genome

Assembly Position
hg19 chr10:124,215,315-124,215,315
hg38 chr10:122,455,799-122,455,799 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001099667.1:c.297+775T>G
Ensemble ENST00000528446.1:c.297+775T>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.352
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 611313 OMIM
HGNC 32685 HGNC
Ensembl ENSG00000254636 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40934462 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
0.404 age related macular degeneration Genome-wide significant main effects were detected at three known AMD loci: CFH ... GWASCAT 23577725 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide significant main effects were detected at three known AMD loci: CFH (P = 7.51×10(-30) ),... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3750848 dbSNP
Genome
hg19
Position
chr10:124,215,315-124,215,315
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs3750848
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3525
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5908
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser