Coordinates

Ref

Read

Genotype (RefGene)

Quality

DP

Frequensy (1000 genomes)

Region (RefGene)

Gene (RefGene)

rs (dbsnp)

GWAR annotation

Clinvar annotation

4471763

A

C

hom

8,64911

1

intergenic

GLIS3(dist=171728),SLC1A1(dist=18664)

4471771

T

C

hom

8,64911

1

intergenic

GLIS3(dist=171736),SLC1A1(dist=18656)

4471784

C

T

het

4,77219

1

intergenic

GLIS3(dist=171749),SLC1A1(dist=18643)

4985879

A

G

het

225,009

30

0,173922

intronic

JAK2

rs2274471

Name=Crohn's disease

4988966

G

C

hom

6,20226

1

intronic

JAK2

5005040

T

C

het

3,54557

1

0,965256

intronic

JAK2

rs7863708

5005080

C

G

hom

6,20226

1

intronic

JAK2

5020529

A

G

hom

11,3429

2

0,967652

intronic

JAK2

rs7030315

5021738

G

A

hom

11,3429

1

0,253794

intronic

JAK2

rs10974919

5042037

G

T

hom

6,20226

1

intronic

JAK2

5042046

C

T

hom

6,20226

1

0,623602

intronic

JAK2

rs7032785

5042981

G

C

hom

5,46383

1

0,635184

intronic

JAK2

rs7033052

5042987

G

A

hom

5,46383

1

0,268171

intronic

JAK2

rs7033053

5043007

C

T

hom

6,20226

1

0,263179

intronic

JAK2

rs12551254

5055015

C

T

hom

180,999

19

0,96885

intronic

JAK2

rs1536799

5068792

C

A

hom

58,9723

3

0,319489

intronic

JAK2

rs73639260

5069837

G

A

hom

221,999

32

0,615016

intronic

JAK2

rs7869668

5072846

G

A

hom

174,999

15

0,207468

intronic

JAK2

rs10974947

5081585

A

G

hom

182,999

41

0,257188

intronic

JAK2

rs7034539

5081780

G

A

hom

221,999

50

0,616813

exonic

JAK2

rs2230724

5082106

G

T

hom

11,3429

1

0,618411

intronic

JAK2

rs2149560

5084837

T

A

hom

184,999

24

0,620807

intronic

JAK2

rs6476939

5085549

A

G

hom

154,134

6

0,213858

intronic

JAK2

rs73395341

5085859

G

C

hom

226,13

15

0,565296

intronic

JAK2

rs62543876

5087087

C

T

hom

11,3429

1

0,142772

intronic

JAK2

rs2031904

5087238

G

A

hom

11,3429

1

0,176518

intronic

JAK2

rs2031905

5087596

G

A

hom

9,52546

1

0,189696

intronic

JAK2

rs2031907

5088163

G

C

het

6,19965

2

intronic

JAK2

5090641

G

A

hom

221,999

98

0,259585

intronic

JAK2

rs10974955

5093614

G

T

het

4,12848

3

0,395367

intronic

JAK2

rs73639263

5093646

C

T

hom

10,4247

1

0,246406

intronic

JAK2

rs12237834

5104640

G

A

hom

11,3429

1

0,41893

intronic

JAK2

rs6476940

5106904

A

T

hom

6,20226

1

0,234026

intronic

JAK2

rs73399345

5108873

C

G

hom

6,20226

1

intronic

JAK2

5112288

C

T

hom

71,9724

3

0,517173

intronic

JAK2

rs3780378

5112447

A

G

het

50,0209

4

0,157748

intronic

JAK2

rs73639264

5112844

G

A

hom

225,544

25

0,656749

intronic

JAK2

rs10815158

5113452

C

T

hom

133,032

9

0,45627

intronic

JAK2

rs9987451

5122932

A

G

hom

221,999

28

0,41254

intronic

JAK2

rs10815163

5126443

T

A

het

207,009

38

0,539137

exonic

JAK2

rs62637626

CLINSIG=untested;CLNDBN=not_specified;CLNREVSTAT=no_assertion_provided;CLNACC=RCV000121245.1;CLNDSDB=MedGen;CLNDSDBID=CN169374

5127050

C

T

het

225,009

67

0,319489

UTR3

JAK2(NM_004972:c.*259C>T)

rs73639265

5127706

C

T

het

127,008

29

0,319489

UTR3

JAK2(NM_004972:c.*915C>T)

rs73639266

6234332

T

C

hom

6,98265

1

0,611022

intronic

IL33

rs58924681

6241647

G

C

het

150,008

29

0,163738

intronic

IL33

rs73639584

6242038

T

C

het

29,0123

4

0,151757

intronic

IL33

rs73639585

6247901

T

C

hom

11,3429

1

0,632987

intronic

IL33

rs12351937

6251455

T

C

hom

157,007

10

0,969848

intronic

IL33

rs1854709

6252689

T

C

het

67,0074

12

0,48123

intronic

IL33

rs73398552

6252721

T

C

het

120,008

16

0,700879

intronic

IL33

rs58109468

6253186

C

G

hom

145,033

8

1

intronic

IL33

rs995919

6253571

C

T

het

225,009

54

0,405152

exonic

IL33

rs10975519

Name=Endometriosis

6253613

G

C

het

225,009

51

0,165735

intronic

IL33

rs73639588

6253710

G

C

het

141,008

28

0,402756

intronic

IL33

rs10975520

6255789

A

C

het

29,0137

3

0,403954

intronic

IL33

rs12336076

6256292

G

A

het

175,009

36

0,402157

UTR3

IL33(NM_001199641:c.*124G>A,NM_033439:c.*124G>A,NM_001199640:c.*124G>A)

rs1048274

6256300

T

C

het

136,008

32

0,165735

UTR3

IL33(NM_001199641:c.*132T>C,NM_033439:c.*132T>C,NM_001199640:c.*132T>C)

rs73639589

6257367

T

C

het

181,009

50

0,844649

UTR3

IL33(NM_001199641:c.*1199T>C,NM_033439:c.*1199T>C,NM_001199640:c.*1199T>C)

rs12000491

6257724

A

G

het

126,008

22

0,844649

UTR3

IL33(NM_001199641:c.*1556A>G,NM_033439:c.*1556A>G,NM_001199640:c.*1556A>G)

rs73398574

136130537

G

A

het

25,024

3

downstream

ABO

rs8176755

136130543

G

A

het

33,0126

3

downstream

ABO

rs62641780

136130610

G

A

het

4,13269

3

UTR3

ABO(NM_020469:c.*443C>T)

rs7466265

136130741

C

T

hom

24,7788

2

0,151558

UTR3

ABO(NM_020469:c.*312G>A)

rs187099314

136131188

C

T

het

13,2188

10

0,152556

exonic

ABO

rs8176749

Name=Tumor biomarkers

136131315

C

G

het

204,009

24

0,152756

exonic

ABO

rs8176747

CLINSIG=other;CLNDBN=ABO_BLOOD_GROUP_SYSTEM\x2c_B(A)_PHENOTYPE;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019312.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN221270:616093

136131322

G

T

het

180,009

24

0,152756

exonic

ABO

rs8176746

Name=mean corpuscular hemoglobin concentration

136131415

C

T

het

134,008

21

0,152955

exonic

ABO

rs8176743

Name=End-stage coagulation

136131461

G

A

het

157,009

22

0,152955

exonic

ABO

rs8176741

136131592

G

C

het

36,0081

7

0,164137

exonic

ABO

rs7853989

136131651

G

A

het

4,12848

3

0,132788

exonic

ABO

rs1053878

CLINSIG=other;CLNDBN=ABO_BLOOD_GROUP_SYSTEM\x2c_B(A)_PHENOTYPE;CLNREVSTAT=no_assertion_criteria_provided;CLNACC=RCV000019312.3;CLNDSDB=MedGen:OMIM;CLNDSDBID=CN221270:616093

136131846

T

C

hom

6,98265

1

0,453874

intronic

ABO

rs7873416

136131895

C

T

hom

6,20226

1

0,163738

intronic

ABO

rs7855255

136132617

G

A

het

6,19938

2

0,176717

intronic

ABO

rs8176725

136132633

A

G

het

8,64466

6

0,461262

intronic

ABO

rs2073824

136132754

C

A

het

123,008

33

0,153954

intronic

ABO

rs8176722

Name=Malaria

136132873

T

C

het

224,009

39

0,453275

exonic

ABO

rs8176720

136133506

A

G

hom

221,999

27

0,726438

exonic

ABO

rs512770

136133699

C

A

hom

77,5133

4

0,684904

intronic

ABO

rs641959

136133714

G

A

hom

27,7716

2

0,685503

intronic

ABO

rs641943

136133743

T

C

hom

11,3429

1

0,685503

intronic

ABO

rs514708

136134034

A

G

hom

11,3429

1

0,718051

intronic

ABO

rs517414

136134472

C

A

hom

11,3429

1

0,696286

intronic

ABO

rs638756

136134994

G

T

hom

9,52546

2

0,696685

intronic

ABO

rs626035

136134995

C

T

hom

9,52546

2

0,696685

intronic

ABO

rs547495

136135047

T

C

hom

95,2638

5

0,707468

intronic

ABO

rs547643

136135096

A

G

hom

19,8099

2

0,707468

intronic

ABO

rs625593

136135195

G

C

hom

94,5135

5

0,696286

intronic

ABO

rs549331

136135237

A

G

hom

222

15

0,732029

exonic

ABO

rs549443

136135238

T

C

hom

222

15

0,707268

exonic

ABO

rs549446

136135365

A

G

hom

140,032

9

0,696086

intronic

ABO

rs624601

136135444

G

A

hom

103,133

7

0,707268

intronic

ABO

rs551322

136135478

A

G

hom

86,2636

5

0,707268

intronic

ABO

rs613423

136136242

A

G

hom

6,20226

1

0,707468

intronic

ABO

rs579622

136136642

A

G

het

9,52088

8

intronic

ABO

136136770

A

C

hom

222,639

16

0,715655

exonic

ABO

rs688976

136137065

A

G

hom

42,7648

2

0,38099

intronic

ABO

rs687621

Name=D-dimer levels,Venous thromboembolism,Activated partial thromboplastin time

136137092

G

T

het

3,54557

1

intronic

ABO

136137106

G

A

hom

9,52546

1

0,375998

intronic

ABO

rs687289

Name=Coagulation factor levels

136137657

C

T

het

96,0077

26

0,135982

intronic

ABO

rs8176693

136138125

G

T

hom

11,3429

1

0,695288

intronic

ABO

rs672316

136140462

C

T

hom

11,3429

1

0,672524

intronic

ABO

rs1633513

136144534

G

A

hom

8,64911

1

0,707069

intronic

ABO

rs488775

136144689

T

G

hom

7,79993

1

0,72504

intronic

ABO

rs596141

136144994

G

A

hom

9,52546

1

0,385982

intronic

ABO

rs493246

136146227

A

T

hom

7,79993

1

0,385583

intronic

ABO

rs676457

136148647

T

C

hom

8,64911

1

0,499601

intronic

ABO

rs500498

136148648

G

C

hom

10,4247

1

0,499601

intronic

ABO

rs500499