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Table 1 Genes significant in meta-analysis and identified in CNV-based association tests

From: Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

Gene Name

CNV Type

Group 1

Group 2

CNVR(hg19)

TagSNP

P value

Cases #

Control #

CNV QC Pass/Fail

CNVR(hg19)

TagSNP

P value

Cases #

Control #

CNV QC Pass/Fail

BBS5, KLHL41

Deletion

chr2:170354790–170368798

rs3769772

1.86E-11

30

11

PASS

chr2:170343083–170840224

rs2592804

0.217885025

1

0

FAIL

CDK19

Deletion

chr6:110972494–111696091

rs12198236

0.01327263

3

0

FAIL

chr6:111061814–111381468

rs9374202

0.010264833

3

0

PASS

SYNE1

Deletion

chr6:152938025–152969462

rs6940651

0.237247353

1

0

FAIL

chr6:152511420–152516441

rs7772542

2.04E-09

13

0

FAIL

TARPa

Deletion

chr7:38357194–38364605

rs11765884

3.74E-05

18

13

PASS

chr7:38341226–38341925

rs2736973

2.56E-07

29

26

PASS

TONSL-AS1, TONSLa

Deletion

chr8:144992103–146235564

rs11136344

0.027970085

7

7

PASS

chr8:145660543–145666578

rs2306384

5.04E-05

12

6

PASS

UPF2a

Deletion

chr10:12028228–12076043

rs7899260

0.00313275

4

0

PASS

chr10:12062959–12075960

rs7072007

8.15E-06

9

1

PASS

TET1

Deletion

chr10:70342775–70775081

rs7071780

0.05619918

2

0

FAIL

chr10:70410630–70432644

rs10762236

9.01E-11

15

0

PASS

MICU1

Deletion

chr10:74250792–74534174

rs7912170

0.237133237

1

0

FAIL

chr10:74304790–74433626

rs7909573

4.56E-08

11

0

PASS

ADK

Deletion

chr10:76092179–76099557

rs10824151

5.31E-06

14

5

FAIL

chr10:76372037–77001459

rs4746209

0.047420164

2

0

FAIL

NUCB2a

Deletion

chr11:17300844–17320797

rs12419530

4.08E-05

7

0

PASS

chr11:17332461–17339127

rs10466382

0.034028702

3

1

PASS

LARP4

Deletion

chr12:49846626–51537196

rs10876136

0.237133237

1

0

FAIL

chr12:50768339–50807570

rs7296212

2.21E-05

7

0

PASS

AQR

Deletion

chr15:34261920–35227613

rs16954263

0.237133237

1

0

FAIL

chr15:35233730–35252767

rs4513050

2.33E-09

17

3

FAIL

PIGL

Deletion

chr17:15043999–16221319

rs7210224

0.237133237

1

0

FAIL

chr17:16196056–16207526

rs11868284

2.21E-05

7

0

PASS

PAFAH1B1

Deletion

chr17:1811983–2578648

rs9674799

0.056145117

2

0

FAIL

chr17:2534710–2561169

rs11078288

0.000478637

5

0

PASS

SLC19A1

Deletion

chr21:46298869–47863025

rs2330183

0.138704428

2

1

FAIL

chr21:46945024–46953292

rs4819128

9.13E-06

10

2

PASS

FOLH1B

Duplication

chr11:89123768–89405190

rs7929532

0.237133237

1

0

FAIL

chr11:89374850–89405190

rs7112871

3.71E-35

54

2

FAIL

  1. aGenes/loci passed CNV QC in both groups