| General information of RDP00598 | |
|---|---|
| Gene Symbol: | BMP5 |
| RefSeq ID: | NM_001329754 |
| Repeat coordinate: | chr6:55853141-55853216 (-) |
| Repeat size: | 15 |
| Repeat region: | intron |
| Repeat unit: | TTTTA |
| Repeat conservation: | PhastCons_score: 0.105; 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 DisGeNET: | |||||
|---|---|---|---|---|---|
| Disease_name | RefSeq | Score | NofPmids | NofSnps | Source |
| Amphetamine Abuse | NM_001099289 | 0.30 | 1 | 0 | CTD_human |
| Congenital Microtia | NM_001329754 | 0.30 | 0 | 0 | GENOMICS_ENGLAND |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
109199333
rs201054545
TGGA
T,TA,TGA
280390.76
2
109199334
.
G
A,T
247821.98
2
109199335
.
G
A,C,GATAA,GATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAACAA,T
344492.43
2
109199338
.
TGG
T
101488.09
2
109199339
.
G
A
167581.06
2
109199340
.
G
A,C
223586.14
2
109199343
.
T
A
101520.38
2
109199344
.
G
A
150853.59
2
109199345
rs868541602
G
A
148246.09
2
109199349
.
G
A
159709.63
2
109199350
.
G
A
145896.86
2
109199354
.
G
A
54153.55
2
109199355
.
G
A
42321.31
2
109199359
.
G
A
50339.14
2
109199360
.
G
A
22211.57
2
109199362
.
A
G
684.43
2
109199364
.
G
A
41395.34
2
109199365
.
G
A
8371.40
2
109199367
.
A
G
559.68
2
109199369
.
G
A
13686.86
2
109199370
rs868149094
G
A
3407.33
2
109199372
.
A
G
526.62
2
109199374
.
G
A
3213.62
2
109199375
rs867186561
G
A
134
2
109199377
.
A
G
421.19
2
109199379
rs867679824
G
A
6059.94
2
109199380
rs868262001
G
A
137.38
2
109199382
.
A
G
374.22
2
109199387
.
A
G
146.28
2
109199392
.
A
G
212.52
2
109199393
.
T
G
8343.79
2
109199397
.
A
G
94.55
2
109199402
.
A
G
56.24
2
109199407
.
A
G
54.94
2
109199412
.
A
G
49.04
2
109199416
.
A
T
960.21
2
109199418
rs796386012
T
TCAACC,TC
94284.01
2
109199419
.
G
C,GTTCC
56465.77
2
109199420
.
G
A
250.48
2
109199421
.
A
G
818.64
2
109199422
.
A
G
1146.43
2
109199426
.
A
G
771.82
2
109199428
rs796192764
T
TTAACC
41687.08
2
109199429
.
G
A,C
15537.86
2
109199431
.
A
G
971.52
2
109199433
rs375330347
T
G
17418.19
2
109199434
.
G
A
15333.35
2
109199435
rs866818056
G
A
3317.78
2
109199436
.
A
G
459.24
2
109199440
.
G
T
5844.78
2
109199441
.
A
G
313.78
2
109199442
.
A
T
1750.66
2
109199444
.
G
C
68.35
2
109199453
rs376618085
T
A
161.81
6
55853138
rs750937640
TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
TAAATAAAATAAAATAAAATAAAATA,TAAATAAAATAAAATAAAATA,TAAATAAAATA,TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA,T,TAAATAAAATAAAATAAAATAAAATAAAATAAAATA
4499185.88
6
55853142
.
T
A
4104922.34
6
55853147
.
TAAAATAAAATAAAATAAAATAAA
T
4011334.77
6
55853148
.
A
T
3978173.17
6
55853153
.
A
G
3775005.92
6
55853154
.
AAAT
A
3626356.49
6
55853155
.
A
C
3623250.25
6
55853157
.
TAAAATAAAATAAAATAAAATAAAATAAAATAAA
T
3630877.90
6
55853159
.
AAATAAAATAAAAT
A
3058390.35
6
55853162
.
TAAAATAAAATAAAATAAAATAAAATAA
T
3053558.25
6
55853163
.
AAAAT
A
3043173.19
6
55853165
.
A
G
2685398.88
6
55853167
.
TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
T,TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
2698082.99
6
55853168
.
AAAATAAAATAAAATAAAAT
A
2673465.31
6
55853172
.
TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
T,TAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
2555095.55
6
55853174
.
A
C
529884.22
6
55853175
rs189115061
A
G
526784.10
6
55853177
.
TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
T
526880.62
6
55853180
rs192948542
AATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT
GATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT,A
433408.49
6
55853184
rs549930160
A
C
98526.85
6
55853185
rs62404983
A
G
112114.82
6
55853189
rs184641971
A
C
94927.31
6
55853190
rs188962076
AATAAAATAAAATAAAATAAAATAAAATAAG
GATAAAATAAAATAAAATAAAATAAAATAAG,A
108212.30
6
55853193
.
AAAATAAAATAAAATAAAATAAAAT
A
103548.86
6
55853194
rs62404984
A
C
110135.63
6
55853195
rs139562820
A
G
110223.04
6
55853199
.
A
C
104290.37
6
55853200
rs181404082
A
G
106760.44
6
55853204
rs773821013
A
C
105824.41
6
55853205
rs184311209
A
G
102811.74
6
55853209
.
A
C
105289.66
6
55853210
rs149289113
A
G,AATAAG
115014.81
6
55853214
.
A
C
102260.08
6
55853215
rs189421969
A
G
76247.08
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
2
109199331
.
AAT
A
.
2
109199333
rs201054545
TGG
T
.
2
109199337
.
A
G
.
2
109199340
.
G
T
.
2
109199347
.
A
G
.
2
109199348
rs374021859
T
C
.
2
109199349
.
G
A
.
2
109199350
.
G
T
.
2
109199352
.
A
G,T
.
2
109199353
.
T
C
.
2
109199354
.
G
C
.
2
109199357
.
A
G
.
2
109199358
.
T
TCAACA
.
2
109199359
.
G
C
.
2
109199360
.
G
A,T
.
2
109199362
.
A
C,G
.
2
109199363
rs367902345
T
A,C,G
.
2
109199364
.
G
C
.
2
109199367
.
A
G
.
2
109199368
rs371404455
T
A
.
2
109199368
.
T
TCATCC
.
2
109199369
.
G
C,T
.
2
109199372
.
A
G
.
2
109199373
rs374706577
T
A
.
2
109199374
.
G
A,C
.
2
109199375
.
G
A
.
2
109199377
.
A
G
.
2
109199378
.
TG
TA,TC,T
.
2
109199379
.
G
GTCC
.
2
109199380
.
G
C
.
2
109199382
.
A
G
.
2
109199383
.
T
C
.
2
109199384
rs369958899
G
A,C
.
2
109199385
.
G
A,C
.
2
109199387
.
A
G
.
2
109199389
.
G
C
.
2
109199390
.
G
A,T
.
2
109199392
.
A
C,G
.
2
109199393
.
T
C
.
2
109199394
.
G
C
.
2
109199395
.
G
A
.
2
109199397
.
A
G
.
2
109199399
.
G
C
.
2
109199400
.
G
C
.
2
109199402
.
A
G
.
2
109199403
rs796517671
T
C
.
2
109199408
rs796651785
T
C
.
2
109199409
rs796250280
G
A
.
2
109199418
rs796386012
T
C
.
2
109199424
rs796955144
G
A
.
2
109199425
rs111834926
G
C
.
2
109199428
rs796192764
T
C
.
2
109199433
rs375330347
T
C
.
2
109199438
rs796327243
T
C
.
2
109199443
rs797004770
T
C
.
2
109199448
rs372211306
T
C
.
2
109199453
rs376618085
T
C
.
2
109199473
rs369623438
T
A
.
2
109199478
rs373539003
T
C
.
2
109199483
rs367745050
T
C
.
2
109199487
rs369125955
A
T
.
2
109199488
rs371200146
T
C
.
6
55853138
rs750937640
TAAATAAAATAAAATAAAATAAAATAAAATAAAATA
T
.
6
55853138
.
TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
T
.
6
55853138
.
TAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA
T
.
6
55853170
.
A
C
.
6
55853172
.
TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA
T
.
6
55853173
.
A
T
.
6
55853175
rs189115061
A
C,G
.
6
55853178
.
A
T
.
6
55853180
rs192948542
A
G
.
6
55853183
.
A
T
.
6
55853184
rs549930160
A
C
.
6
55853185
rs62404983
A
G
.
6
55853189
rs184641971
A
C
.
6
55853190
rs188962076
A
G
.
6
55853193
.
AAA
ACA
.
6
55853194
rs62404984
A
C
.
6
55853195
rs139562820
A
G
.
6
55853200
rs181404082
A
G
.
6
55853204
rs773821013
A
C
.
6
55853205
rs184311209
A
G
.
6
55853209
.
A
C
.
6
55853210
rs149289113
A
G
.
6
55853215
rs189421969
A
G
.
6
55853216
rs577182187
A
C
.