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: rs1057518879
rs1057518879
0.776 0.280 1 11965571 stop gained G/A snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs1218912272
rs1218912272
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs1345176461
rs1345176461
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs1559931177
rs1559931177
0.827 0.120 3 49047207 stop gained G/A snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs199469465
rs199469465
0.672 0.560 16 30737343 stop gained C/A;T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs373145711
rs373145711
0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs387906846
rs387906846
0.807 0.280 1 26773716 stop gained C/G;T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs724159948
rs724159948
1.000 21 37490273 stop gained C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs724159949
rs724159949
0.827 0.240 21 37486563 stop gained C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs724159953
rs724159953
1.000 21 37505352 stop gained C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs771409809
rs771409809
0.732 0.480 4 6301794 stop gained C/T snv 6.0E-05 7.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs866294686
rs866294686
0.683 0.480 10 102657073 stop gained C/A;T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs397517159
rs397517159
0.882 0.200 2 39007168 missense variant C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 3 2007 2007
dbSNP: rs1554389088
rs1554389088
0.807 0.160 7 44243526 missense variant G/A snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2017 2017
dbSNP: rs1554817910
rs1554817910
1.000 10 79216266 missense variant A/G snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2019 2019
dbSNP: rs752746786
rs752746786
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2016 2016
dbSNP: rs772037717
rs772037717
0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2016 2016
dbSNP: rs867410737
rs867410737
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2018 2018
dbSNP: rs869312823
rs869312823
0.882 0.080 1 1806509 missense variant T/C snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
0.827 0.200 1 1804565 missense variant A/G snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 1.000 1 2016 2016
dbSNP: rs1085307993
rs1085307993
0.716 0.440 5 161331056 missense variant C/T snv
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs1344172059
rs1344172059
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs139632595
rs139632595
0.807 0.160 4 121801465 missense variant T/C snv 6.0E-05 2.5E-04
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0
dbSNP: rs141322087
rs141322087
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
0.700 0