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Table 5 The details of SNV/InDel information

From: Screening of Graves' disease susceptibility genes by whole exome sequencing in a three-generation family

Gene MAP7D2 SLC1A7 TRAF3IP3 PTPRB PIK3R3 DISC1
Information       
Position X:20,074,820 1:53,556,483 1:209,933,593 12:70,956,666 1:46,546,408 1:231,906,773
exon 4 8 3 14 2 6
SNP ID rs750367268 rs555004337 rs186466118 rs115181807 rs56229136
Ref allele G G A T G G
Alt allele A A T C A C
Function missense missense missense missense missense missense
PolyPhen-2 score 0.139(benign) 0.729(possibly damaging) 0.521(possibly damaging) 1(probably damaging) 0.059(benign)
Freq_Alt (1000) 0.000199 0.001797 0.004193 0.000599
Kaviar_
20,150,923
0.0000194 0.0000388 0.0006015 0.0015006 0.0003428
ESP6500 0.000077
gnomAD 0.000011 0.000028 0.0006 0.0019 0.000022 0.0004
CMDB 0.0038 0.0051
Genotype       
Case 1 G/A G/A A/T T/C G/A G/C
Case 2 G/A G/A A/T T/C G/A G/C
Case 3 G/A G/A A/T T/C G/A G/C
Case 4 G/A G/A A/T T/C G/A G/C
Case 5 A/A G/A A/T T/C G/A G/C
Con 1 G/G G/G A/A T/T G/G G/G
Con 2 G/G G/G A/A T/T G/G G/G
  1. CMDB: Chinese Millionome Database; –: No found