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: rs867410737
rs867410737
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2018 2018
dbSNP: rs869312822
rs869312822
0.827 0.200 1 1806514 missense variant A/C snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2016 2016
dbSNP: rs886039773
rs886039773
SON
0.925 0.120 21 33554982 frameshift variant TTAG/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2016 2016
dbSNP: rs886039777
rs886039777
0.925 0.120 21 33549517 stop gained C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2016 2016
dbSNP: rs886039778
rs886039778
SON
0.925 0.120 21 33552303 frameshift variant -/A delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2016 2016
dbSNP: rs886039779
rs886039779
SON
0.925 0.120 21 33557227 frameshift variant C/- delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 1.000 1 2016 2016
dbSNP: rs1009298200
rs1009298200
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1010184002
rs1010184002
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1043679457
rs1043679457
0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1057518731
rs1057518731
0.807 0.280 17 63833908 splice donor variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1057518733
rs1057518733
0.807 0.280 17 63837439 splice donor variant A/G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1057521737
rs1057521737
0.827 0.240 22 41173768 missense variant T/C snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1085307993
rs1085307993
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs111033212
rs111033212
0.851 0.240 7 107689054 missense variant T/A;C snv 4.0E-06; 8.6E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs114925667
rs114925667
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1164484724
rs1164484724
0.790 0.240 9 137108433 stop gained C/T snv 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs119103263
rs119103263
0.827 0.240 1 11992659 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs121434341
rs121434341
0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs121912854
rs121912854
0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs121912855
rs121912855
0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs121918455
rs121918455
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs138632121
rs138632121
0.776 0.400 16 3026140 missense variant T/A snv 1.7E-04 2.0E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs139632595
rs139632595
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0
dbSNP: rs1421405659
rs1421405659
0.851 0.360 12 101642529 missense variant T/C;G snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive
0.700 0