Table 1 Significant associations in the replication series and/or final joint meta-analysis

From: Sex specific associations in genome wide association analysis of renal cell carcinoma

SNP

HGVS Nomenclature (GRCh37)

Nearest gene

Reference Allele##

Alternate Allele

Effect Allele#

Discovery

Replication

Combined

Female (N = 5087)

Male (N = 8143)

Female (N = 2974)

Male (N = 8113)

Female (N = 8061)

Male (16,256)

OR (95% CI)

P

OR[95%CI]

P

OR[95%CI]

P

OR[95%CI]

P

OR [95% CI]

Meta P-value

Het

Pvalue

OR (95% CI)

Meta P-value

Het

Pvalue

rs4903064

NC_000014.8:g.73279420 T > C

DPF3**

T

C

C

1.47 [1.33-1.62]

9.0 × 10−14

1.09 [1.01–1.19]

0.02

1.24 [1.07–1.42]

0.003

1.09 [0.98–1.21]

0.10

1.38 [1.27–1.50]

1.5 × 10−14

0.10

1.09 [1.03–1.16]

0.005

0.54

rs2121266

NC_000002.11:g.46535924 C > A

EPAS1**

C

A

C

1.06 [0.97–1.15]

0.20

1.2 [1.12–1.28]

2.5 × 10−7

1.14 [1.00–1.30]

0.03

1.15 [1.05–1.26]

0.002

1.09 [1.01–1.17]

0.02

0.001

1.18 [1.12–1.25]

1.8 × 10−9

0.62

rs147304092

NC_000007.13:g.33442937 A > G

BBS9*

A

G

G

0.62 [0.52–0.76]

2.0 × 10−6

1.05 [0.91–1.22]

0.49

0.97 [0.76–1.24]

0.82

1.20 [1.00-1.43]

0.05

0.72 [0.63-0.84]

1.0 × 10−5

0.03

1.11 [0.99-1.24]

0.08

0.54

rs13027293

NC_000002.11:g.120001118 G > T

STEAP3*

G

T

T

1.23 [1.12–1.35]

8.0 × 10−6

0.96 [0.89–1.03]

0.28

0.87 [0.77–1.00]

0.04

1.00 [0.91–1.10]

0.95

1.10 [1.02–1.19]

0.01

1.6 × 10−4

0.97 [0.92–1.03]

0.37

0.52

rs6554676

NC_000005.9:g.1233350 A > T

SLC6A18*

A

T

A

0.62 [0.51–0.77]

6.0 × 10−6

0.81 [0.69–0.95]

0.008

0.80 [0.61–1.05]

0.11

0.81 [0.67–0.99]

0.04

0.68 [0.58–0.81]

6.1 × 10−6

0.07

0.81 [0.72–92]

0.001

0.67

rs10484683

NC_000006.11:g.148152077 A > G

SAMD5**

A

G

G

0.96 [0.87–1.07]

0.48

0.8 [0.74–0.88]

4.7 × 10−7

1.04 [0.89-1.21]

0.63

0.93 [0.82-1.04]

0.20

0.98 [0.90-1.07]

0.68

2.9 × 10−4

0.83 [0.78-0.89]

1.7 × 10−8

0.20

rs78971134

NC_000012.11:g.107652531 A > G

BTBD11**

A

G

G

0.91 [0.78–1.06]

0.23

0.69 [0.61–0.79]

4.5 × 10−8

0.97 [0.78–1.20]

0.78

0.87 [0.74–1.03]

0.10

0.93 [0.82–1.06]

0.26

0.21

0.75 [0.68–0.83]

1.6 × 10−8

0.15

  1. ** indicates association identified at < 5% FDR and * indicates association identified at < 30% FDR in the discovery series;
  2. OR [95% CI] Odds Ratio [95% confidence interval]; Meta P-Value Meta-analysis P-value; Het P-value heterogeneity P-value among studies, HGVS Human Genome Variation Society
  3. ## Reference and alternate alleles as given by dbSNP, # Allele for which the effect size was calculated
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