TABLE A2

All known genes on chromosome 20q (35.7–43.0 Mb) with validated SNPs listed for allele frequency in probands and normal subjects

Geners numberSNP positionAllele frequency, normal pool 1, n = 300 allelesSDAllele frequency, proband pool 1, n = 300 allelesSDΔ*PAllele frequency, proband pool 2, n = 252 alleles
RBL111246923544233424.1 C125.4 C10.90.802
19369993550191027.2 G3.426.9 G3.60.31
18922053551300944.1 G0.744 G1.30.11.04
17447653552538614.6 G0.715.2 G10.60.936
RPN210766863561362347 A148.2 A0.91.20.843
7656303565355221.7 G1.3 (6)20 G1.81.70.709
20124393566882318.1 T1.914.5 T1.23.60.337
G10013513567464930.3 T0.628 T1.12.30.625
GHRHNo Gene SNPs
G10434153574779131.9 G2.427.6 G1.54.30.327
SRC7546253582008037.8 G1.334.2 G1.83.60.43937.2 G
15702093583138713.6 C2.311 C2.12.60.466
18852573583349520.4 G1.920.8 G3.40.40.985
G1033623359389158.3 A2.711.1 A2.62.80.3928.0 A
10073733594484424.6 A0.422.1 A0.82.50.56821.9 A
BLCAP/NNATNo Gene SNPs
G20247943597255348.3 C1.549.2 C0.60.90.89748.1 C
C20orf7719627463646694322.1 C1.621.5 C1.80.60.943
9907923647402638.9 A1.537.1 A2.81.80.731
9106643648485747.3 C1.248.3 C14.40.352
TGM215550743656375815.9 T119.8 T1.23.90.30816.1 T
G18834843660126319.1 T1.216.1 T0.53.10.444
BPI13410243673523244.2 C0.943.1 C1.41.10.86
20662523673980246.8 T0.647 T0.60.21.02
13410213674079118.4 T1.718.6 T2.50.21.0318.3 T
1543743676578145.8 C1.848.8 C0.75.40.542
G20224983676864941.1 T1.242.9 T0.91.80.734
16098003678106635.8 A1.235.5 A1.50.3135.1 A
7370913681247946.9 A1.249 A1.12.10.686
17806173677671324.1 G1.322.2 G21.90.679
LBP17396543678052619.4 T1.319.6 T1.10.21.03
17806233679182549.7 G1.347.6 G0.72.10.686
17806243679185846.8 G1.946.7 G1.50.11.04
17806273680018846.7 T1.346.7 T1.901.06
17396403680449041.8 T0.942.8 T1.110.878
G7370903681218049.6 G2.949.9 G1.73.1148 G
20169463725876125 A0.721.4 A13.60.389
VIAAT26673263715426218.3 T1.2 (7)17.6 T1.70.70.917
13210993716120120.6 G1.4 (7)18.4 G1.52.20.603
PPP1R16B2088173729487249.5 C/50.5 T1.149 C0.70.50.969
7424213732187731.6 T1.428.1 T0.73.50.434
103923735349126.8 T0.822.8 T0.940.342
DDX359745603739375442 A1.242.5 A2.10.50.96940.9 A
20641813741579538.1 T1.836.3 T1.91.80.73
7422773743130539.4 G0.536.4 G0.830.531
9263933744858446.1 T1.643.6 T12.50.619
1011203745997547.8 A1.946.5 A1.91.30.825
15349283746712042.3 A1.341.2 A1.11.10.859
KRML3577391172268.7 T0.413.5 T0.54.80.137
G7427393914849628.2 C1.728.1 C1.20.11.05
932440391290718.7 T0.413.5 T0.54.80.137
7427403914843723.6 T126.8 T1.13.10.46
TOP 120765753952338616.7 G1.118.7 G1.420.633
PRO0628No Gene SNPs
PLCG19263453957450343.9 C1.948.2 C0.54.30.36346.5 C
7533813960002134.5 A0.332.7 A0.51.80.725
TIX1223536339610325
223536439610606
207614739615562
26645373961628513.2 T0.920.8 T1.37.60.03517.8 T
223536739632678
RPL12L290337439983421
PTPRT7464134051254544.4 A0.940.3 A0.74.10.38441.2 A
20166474051703423.9 T2.421.3 T2.22.60.546
9097754053043045.3 C0.739.9 C1.15.40.242
10147574066417845.2 G0.744.4 G10.80.915
9290714078198524.3 T1.227.9 T1.82.60.403
10336414100212349.5 C0.945.5 T0.650.401
7424204113713729 T0.734.3 T0.85.30.227
20386684118042140.4 A1.440.4 A1.301.06
G7610394188551210.2 C1.215.3 C0.65.10.12912.5 C
SFRS622356114189206615.2 T1.3 (6)17.8 T1.62.60.506
G122644189391276.3 A1.174.5 A0.91.20.818
H-L(3)MBT20719684196632332.5 C0.930.6 C1.51.90.703
32054198200018.2 C1.817 C11.20.803
G20092804199146918.8 T1.319.6 T1.80.80.764
SGK29164104200579236.9 G1.742 G0.95.10.266
7632274200761626.3 C1.431.1 C3.34.80.266
MYBL2826950421049267.2 G210.5 G23.30.289
4421434211306433.5 T0.940.7 T1.67.20.10630.5 T
4198424211336620.2 A0.727.8 A0.67.60.05718.2 A
285186421176467.4 G0.712.9 G1.55.50.777.5 G
C20orf11198754262804221.1 G0.826.5 G2.35.40.184
82684262848422.1 A1.6 (7)20.7 A0.9 (5)1.40.773
9566094263999616 G1.516.8 G1.3 (7)0.80.891
21436064264110538.3 C1.239.2 C1.90.90.876
MGC31297613314269618544.6 C0.849.3 C0.94.70.317
G7643834271964918.2 C1.322.8 C1.2 (7)4.60.242
18846144278307423.4 T1.127.2 T1.33.80.372
7172474282833932.7 G1.927.9 G1.24.80.272
HNF4a7368214283663418.5 T0.822.8 T0.64.30.278
7368234283733840.6 A2.944.3 A1.23.70.43741.7 A
10285834285331626.8 T132.9 T0.96.10.15533.1 T
TDE120154374294450024.7 T2.224.8 T0.90.11.0524.3 T
  • *

    * Average difference between the normal and proband pool frequencies for the SNP;

  • intragenic SNPs. Numbers in parentheses indicate the number of replications if <8.