chr22:37632770:T>G Detail (hg19) (RAC2)

Information

Genome

Assembly Position
hg19 chr22:37,632,770-37,632,770
hg38 chr22:37,236,730-37,236,730 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002872.4:c.108-3812A>C
Ensemble ENST00000249071.11:c.108-3812A>C
ENST00000405484.5:c.87-3812A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602049 OMIM
HGNC 9802 HGNC
Ensembl ENSG00000128340 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant 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
<0.001 congestive heart failure Multivariate analysis revealed that the odds of CHF was higher in females [Odds ... BeFree 23927520 Detail
0.132 Hypertensive disease Multivariate analysis revealed that the odds of CHF was higher in females [Odds ... BeFree 23927520 Detail
Annotation

Annotations

DescrptionSourceLinks
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P ... DisGeNET Detail
Multivariate analysis revealed that the odds of CHF was higher in females [Odds Ratio (OR) = 2·9, P ... DisGeNET Detail
Non melanoma specific model (lymphoma). Increased cardiotoxicity. Phase III RCT comparing variants o... MMMP Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr22:37,632,770-37,632,770
Variant Type
snv
Reference Allele
T
Alternative Allele
G
MMMP State (molecule) (MMMP)
polymorphism 7508T>A (rs13058338)
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