chr15:60841275:A>G Detail (hg19) (RORA)

Information

Genome

Assembly Position
hg19 chr15:60,841,275-60,841,275
hg38 chr15:60,549,076-60,549,076 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_134260.2:c.295+7777T>C
NM_134262.2:c.32-17225T>C
NM_134261.2:c.197-17225T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.908
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 600825 OMIM
HGNC 10258 HGNC
Ensembl ENSG00000069667 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv53179479 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
0.015 bipolar disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
0.005 bipolar disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 seasonal affective disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
0.001 winter depression The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 depressive disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
0.008 bipolar disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
0.004 seasonal affective disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 depressive disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 seasonal affective disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 winter depression The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 winter depression The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
0.006 bipolar disorder The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 winter depression The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 winter depression The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
<0.001 winter depression The findings that have gained support indicate that genetic variants of RORA (rs... BeFree 22538398 Detail
Annotation

Annotations

DescrptionSourceLinks
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail
The findings that have gained support indicate that genetic variants of RORA (rs2028122) and CRY1 (r... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2028122 dbSNP
Genome
hg19
Position
chr15:60,841,275-60,841,275
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))
rs2028122
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9077
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15213
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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