| General information of RDP00019 | |
|---|---|
| Gene Symbol: | SMAD9 |
| RefSeq ID: | NM_001127217 |
| Repeat coordinate: | chr13:36920188-36920215 (-) |
| Repeat size: | 9 |
| Repeat region: | 5' UTR |
| Repeat unit: | CCG |
| Repeat conservation: | PhastCons_score: 0.132; Repeat Conservation from UCSC Genome Browser |
| Amino acid sequence: | - |
| 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 |
| Pulmonary hypertension, primary, 2, 615342 (3) | 603295 | 13q13.3 |
| Mapping repeat track to DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Pulmonary Hypertension, Primary, 1 | NM_001127217 | 0.30 | 0 | 0 | CTD_human |
| Mapping repeat track to ClinVar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
36920184
311917
AGCAGCG
A
.
13
36920184
311914
AGCAGCGGCG
TGCA
.
13
36920187
311920
AGCGGCG
A
.
13
36920193
311921
G
A
.
13
36920193
311922
G
C
.
13
36920197
311923
G
C
.
13
36920211
311924
G
A
.
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
36920184
rs578049648
AGCAGCGGCGGCGGCG
AGCGGCGGCG,AGCAGCGGCAGCGGCGGCGGCG,AGCGGCG,A,AGCGGCAGCGGCGGCGGCG
2608752.49
13
36920187
rs575906743
AGCGGCGGCG
AGCG,GGCGGCGGCG,AGCGGCGGCGGCG,AGCGGCG,A
7900269.80
13
36920189
.
CGGCG
C,CTGGCG
7642050.39
13
36920190
.
G
GGCC,GCA
7650542.66
13
36920192
.
C
CA
7265202.65
13
36920193
.
G
A,GCA,C
7353330.09
13
36920194
.
G
C
135255.88
13
36920195
.
C
G
85969.80
13
36920196
.
G
A
85722.96
13
36920197
.
G
C
30351.41
13
36920199
rs868611498
G
A
26393.56
13
36920203
.
G
GCGGCGGCGGCCC,GCGGCGGCGGCGGCCC
13737.68
13
36920205
.
G
A,GGCA
1092.90
13
36920208
.
G
A
295.53
13
36920210
.
C
T
445.16
13
36920211
.
G
A,GGCA
83358.35
13
36920215
.
G
T
239.38
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
13
36920166
.
GACCGAGACAGCGGCTGCAGCAGCGGCGG
GACCGAGACAGCGGCTGCAGCAG
.
13
36920184
rs578049648
AGCAGCG
A,AGCG
.
13
36920184
.
AGCAGCGGCG
A
.
13
36920187
.
AGCGGCG
A,G
.
13
36920187
.
AGCG
A
.
13
36920187
rs770040180
AGCGGCG
A,AGCG,AGCGGCGGCG
.
13
36920187
.
AGCGGCGGCG
A,AGCG
.
13
36920190
.
G
A
.
13
36920193
.
G
A
.
13
36920207
.
CGGCG
CGGCA
.