chr9:134393657:A>G Detail (hg38) (RXRA)

Information

Genome

Assembly Position
hg19 chr9:137,285,503-137,285,503 View the variant detail on this assembly version.
hg38 chr9:134,393,657-134,393,657

HGVS

Type Transcript Protein
RefSeq NM_001291920.1:c.29-7975A>G
NM_001291921.1:c.29-7975A>G
NM_002957.5:c.29-7975A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.779
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 180245 OMIM
HGNC 10477 HGNC
Ensembl ENSG00000186350 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv37910283 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
0.007 measles A significant association was found between lower measles-specific IFN-γ Enzyme-... BeFree 22082653 Detail
<0.001 measles A significant association was found between lower measles-specific IFN-γ Enzyme-... BeFree 22082653 Detail
Annotation

Annotations

DescrptionSourceLinks
A significant association was found between lower measles-specific IFN-γ Enzyme-linked immunosorbent... DisGeNET Detail
A significant association was found between lower measles-specific IFN-γ Enzyme-linked immunosorbent... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11102986 dbSNP
Genome
hg38
Position
chr9:134,393,657-134,393,657
Variant Type
snv
Reference Allele
A
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))
rs11102986
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7788
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13053
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser