chr9:137288746:T>C Detail (hg19) (RXRA)

Information

Genome

Assembly Position
hg19 chr9:137,288,746-137,288,746
hg38 chr9:134,396,900-134,396,900 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001291920.1:c.29-4732T>C
NM_001291921.1:c.29-4732T>C
NM_002957.5:c.29-4732T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.732
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 tgv37910417 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
rs10776909 dbSNP
Genome
hg19
Position
chr9:137,288,746-137,288,746
Variant Type
snv
Reference Allele
T
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))
rs10776909
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7318
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12265
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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