Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs779027563
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 1.000 1 2017 2017
dbSNP: rs1060499679
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs112543062
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs1178187217
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs1555269154
rs1555269154
GNPTAB
0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs201943194
rs201943194
DNAH11
0.683 0.480 7 21710596 stop gained C/T snv 8.5E-05 8.4E-05
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs750240374
rs750240374
GNPTAB
0.882 0.240 12 101766103 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		0.700 0