| General information of RDP00393 | |
|---|---|
| Gene Symbol: | ADRB1 |
| RefSeq ID: | NM_000684 |
| Repeat coordinate: | chr10:114045416-114045431 (+) |
| Repeat size: | 5 |
| Repeat region: | CDS |
| Repeat unit: | GAC |
| Repeat conservation: | PhastCons_score: 0.723; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | DDDDD |
| Gene expression and GO annotation: | BioGPS |
| Protein expression: | Human Protein Altas |
| Gene conservation: | Gene Conservation from UCSC Genome Browser |
| Mapping repeat track to OMIM: | ||
|---|---|---|
| Phenotype | OMIM_id | Location |
| {Congestive heart failure and beta-blocker response, modifier of} (3) | 109630 | 10q25.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Heart Decompensation | NM_000684 | 0.30 | 5 | 0 | CTD_human |
| Mapping repeat track to ExAC: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
114045416
rs754880345
GGAC
G,GGACGAC
7295.84
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
114045416
rs754880345
GGACGAC
GGAC,GGACGACGAC,G
4600.23
10
114045419
.
C
A
1595.90
10
114045431
.
CGAT
C
1843.13
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
10
114045416
rs754880345
GGAC
G
.
10
114045423
.
GA
G
.
10
114045428
.
C
T
.