| General information of RDP00577 | |
|---|---|
| Gene Symbol: | PHLDB2 |
| RefSeq ID: | NM_001134437 |
| Repeat coordinate: | chr3:111780321-111780411 (+) |
| Repeat size: | 30 |
| Repeat region: | intron |
| Repeat unit: | GAA |
| Repeat conservation: | PhastCons_score: 0.082; 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 |
| familial atrial fibrillation | NM_001134437 | 0.30 | 1 | 0 | CTD_human |
| Mapping repeat track to gnomAD: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
111780275
.
AAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
A,AAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG,AAGGAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG,AG
44069.24
3
111780278
.
AAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAG
AAAGAAGAAG,GAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAG,AGAAGAAGAAG,AAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAG,A
61476.83
3
111780321
rs28719697
GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
G,GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA,AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA,GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA,GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
133241.65
3
111780324
rs80288475
A
AGAG,G
47343.19
3
111780325
.
GA
G
286226.80
3
111780327
rs76892357
A
AGAGGAAGAAGAG,AGAG,G
197053.13
3
111780328
.
GAAGAAGAAGAAGAAGAA
GGAAGAAGAAGAA,GGAAGAA,GGAA,GGAAGAAGAA,G
237611.68
3
111780330
rs188012145
A
G
412504.06
3
111780331
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
G
221203.49
3
111780333
rs79607852
A
G,AGAG
362415.95
3
111780336
.
A
G,AGAAGAAGAG
186070.90
3
111780339
rs200287186
A
G
353957.56
3
111780342
rs11710833
A
G
151101.25
3
111780345
.
A
G
196474.15
3
111780346
.
G
C
18830.11
3
111780348
rs189521601
A
G
192873.40
3
111780349
.
G
C
11488.14
3
111780351
.
A
G
164733.70
3
111780352
.
G
C
8124.53
3
111780354
.
A
G,AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG
133111.91
3
111780355
.
G
C
1155.24
3
111780357
.
A
G
106100.44
3
111780360
rs77442563
A
G
104779.34
3
111780363
.
A
G
23314.63
3
111780364
rs373683379
G
C
3006.96
3
111780366
rs867989707
A
G
14399.26
3
111780367
.
G
C
1727.14
3
111780368
.
A
G
373.82
3
111780369
.
A
G
9216.16
3
111780372
rs868447427
A
G
19117.75
3
111780375
.
A
G
5763.39
3
111780376
.
G
C
19729.72
3
111780378
.
A
G
21841.09
3
111780379
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA
G
866.70
3
111780380
.
A
G
13689.89
3
111780381
.
A
G
17849.84
3
111780382
.
GAAGAAGAAGAAGAAGAA
G
1409.88
3
111780384
rs867064086
A
G,AGAG
17296.45
3
111780385
.
GAAGAAGAAGAAGAA
G,CAAGAAGAAGAAGAA
1836
3
111780387
.
A
G,AGAG
37676.80
3
111780388
.
GAAGAAGAAGAA
G
2975.60
3
111780390
.
A
G
10171.90
3
111780391
.
GAAGAAGAAGAAGAAGAAGAAA
CAAGAAGAAGAAGAAGAAGAAA,G,GGAAGAAGAAGAAA
40882.80
3
111780393
.
A
G,AGAG
12561.49
3
111780394
rs201565177
GAAGAAGAAGAAGAAGAAA
G,GGAAGAAGAAGAAA
7534.97
3
111780396
rs142928437
A
AG,G,AGAAGAG,AGAAGAAGAG
52470.19
3
111780397
rs77036221
GAAGAAGAAGAAGAAA
GGAAGAAGAAGAAA,G
82912.56
3
111780398
.
A
AGG
74664.59
3
111780400
rs761456173
GAAGAAGAAGAAA
G,GAAGAAGAAGAAAGAAGAAGAAA
21848.87
3
111780402
.
A
AGAAGAAGAAGAAGAAG,AGAAGAAGAAGAAGAAGAAG,AGAAGAAGAAGAAGAAGAAGAAGAAG,AGAAGAAGAAGAAG
6411.64
3
111780403
.
GAAGAAGAAA
G
4506.81
3
111780404
.
A
G
4783.43
3
111780405
.
A
G,AGAAG
5641.70
3
111780406
.
GAAGAAA
GGAAA,G
7115.93
3
111780408
rs545018643
A
G
16362.73
3
111780409
.
GAAA
G,GA
9292.14
3
111780410
.
A
AGG
9723.36
3
111780411
rs182344279
A
AGGAAGAAGAAG,T,AG
28425.27
| Mapping repeat track to Kaviar: |
|---|
Chr
Pos
dbSNP_ID
Ref
Alt
Qual
3
111780278
.
AAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
A
.
3
111780278
.
AAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
A
.
3
111780282
.
AGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGA
AGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGA
.
3
111780286
.
GAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA
G
.
3
111780290
.
AAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
A
.
3
111780303
.
GGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
GGAAG
.
3
111780317
.
AAGAGGAA
AAGAAGAG
.
3
111780320
.
AGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
AGGAAGAAGAAGAAGAAGAGGAAG
.
3
111780321
.
GGAA
AGAG
.
3
111780321
.
GGAAGAA
AGAGGAA
.
3
111780321
rs776116547
GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA
G
.
3
111780323
.
AAGAAGAAGAAGAAGAAGAAGAA
AAGAAGAGGAAGAAGAGGAAGAA
.
3
111780324
rs80288475
A
G
.
3
111780324
.
AGAA
GGAA
.
3
111780327
rs76892357
A
G
.
3
111780327
.
AG
GG
.
3
111780327
.
AGAA
GGAA
.
3
111780327
.
AGAAGAA
GGAAGAG
.
3
111780327
.
AGAAGAAGAAGAA
AGAGGAAGAAGAG
.
3
111780327
.
AGAAGAAGAAGAAGAAG
AGAGGAAGAAGAGGAAG
.
3
111780327
rs769147841
A
AGAG
.
3
111780328
.
G
C
.
3
111780328
.
GAAG
GAGG
.
3
111780328
.
GAAGA
GAGGA
.
3
111780329
.
AA
AG
.
3
111780330
rs188012145
A
G
.
3
111780330
.
AG
GG
.
3
111780330
.
AGAA
AGAG
.
3
111780330
.
AGAAGAAGAA
GGAAGAAGAG
.
3
111780331
.
G
C
.
3
111780331
.
GAAGAAGAAGAAG
CAAGAAGAAGAAG
.
3
111780333
rs79607852
A
G
.
3
111780333
.
AG
GG
.
3
111780333
.
AGAAGAAGAA
GGAAGAAGAG
.
3
111780335
rs369055063
AAG
A,AGC
.
3
111780336
.
A
G
.
3
111780337
.
GAAGAA
GAGGAA
.
3
111780338
.
AA
AG
.
3
111780338
.
AAGAAGA
AGGAAGA
.
3
111780339
rs200287186
A
G
.
3
111780339
.
AGAA
GGAA
.
3
111780339
.
AGAAG
GGAAG
.
3
111780339
.
AGAAGAA
GGAAGAA
.
3
111780339
.
AGAAGAAGA
GGAAGAAGA
.
3
111780339
.
AGAAGAAGAA
GGAAGAAGAG
.
3
111780339
.
AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA
AGAAG
.
3
111780340
.
G
C
.
3
111780340
.
GA
TG
.
3
111780340
.
GAAGAAGAAGAAGA
GAAGAAGAGGAAGA
.
3
111780342
rs11710833
A
G
.
3
111780342
.
AGAAGAA
AGAAGAG
.
3
111780343
.
G
C
.
3
111780343
.
GAAGAA
GAAGAG
.
3
111780345
.
A
G
.
3
111780346
.
G
C
.
3
111780347
.
AA
AG
.
3
111780348
rs189521601
A
G
.
3
111780348
.
AGA
GGA
.
3
111780348
.
AGAA
GGAA
.
3
111780349
.
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA
G
.
3
111780351
.
A
G
.
3
111780352
.
G
C
.
3
111780354
.
A
G
.
3
111780356
.
AA
GG
.
3
111780357
.
A
G
.
3
111780357
.
AG
AC
.
3
111780357
.
AGAAG
GGAAG
.
3
111780357
.
AGAAGA
GGAAGA
.
3
111780358
.
G
C
.
3
111780360
rs77442563
A
G
.
3
111780361
.
G
C
.
3
111780361
rs371056752
GAA
G
.
3
111780363
.
A
G
.
3
111780364
rs373683379
GAA
G
.
3
111780365
.
AAGAAGAAGAAG
AGGAAGAGAAAG
.
3
111780366
.
A
G
.
3
111780367
.
G
A,C
.
3
111780368
.
AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAA
AAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGGAAGAAGAAGAAA
.
3
111780369
.
A
G
.
3
111780370
.
G
C
.
3
111780372
.
A
G
.
3
111780373
.
G
C
.
3
111780374
.
AAGA
TGGG
.
3
111780375
.
A
G
.
3
111780376
.
G
A,C
.
3
111780379
.
GAAGAAGAAGAAGAAGAAGAA
G
.
3
111780381
.
A
G
.
3
111780381
.
AG
TT
.
3
111780384
.
A
G
.
3
111780384
.
AGAAGAAGAAGAAGAA
GGAAGAAGAAGAAGAAG
.
3
111780389
.
AAGAAGAAGAA
AAGAAGAAGAAG
.
3
111780392
.
A
C,G
.
3
111780392
.
AAGAAGAA
AAGAAGAAG
.
3
111780393
.
A
G
.
3
111780393
.
AGAAGAA
AGAAGAAG
.
3
111780394
.
GAA
G
.
3
111780394
.
GAA
G
.
3
111780394
rs201565177
GAAGAA
GAAG,GAAGAAG,G
.
3
111780395
.
AAGAAGAAGAAGAAGAAA
AAGGAAGAAGAAGAAA
.
3
111780396
rs142928437
A
G
.
3
111780396
.
AGAA
AGAAG
.
3
111780396
rs201054254
A
AG
.
3
111780397
.
GAA
G,GAG
.
3
111780397
.
G
GA
.
3
111780397
rs77036221
GAA
GAAG,G,GGAG
.
3
111780398
.
A
G
.
3
111780399
rs201290567
A
AG,G
.
3
111780399
rs61182634
A
AGAAGAAGAAGAAG,AG
.
3
111780400
rs751320904
G
GA
.
3
111780400
rs761456173
GAA
G
.
3
111780402
.
A
G
.
3
111780402
.
A
AG
.
3
111780403
.
GAAGAAGAAA
G
.
3
111780405
.
A
AG
.
3
111780408
rs545018643
A
G
.
3
111780410
.
A
G
.
3
111780410
.
AAA
AAG
.
3
111780411
rs182344279
A
T
.
3
111780411
.
AA
TT
.