Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1218912272
rs1218912272
FLG ; FLG-AS1
8 0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 0.700 0
dbSNP: rs1114167294
rs1114167294
FOXP4
4 0.925 6 41587455 frameshift variant T/- del 0.700 0
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
GNB1
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs786200952
rs786200952
KAT6A
13 0.851 0.120 8 41934340 frameshift variant -/T delins 0.700 1.000 1 2015 2015
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs1380822792
rs1380822792
NAA15
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
dbSNP: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs200661329
rs200661329
PIGQ
48 0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs1555257073
rs1555257073
POMP
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs1554643142
rs1554643142
PUF60
4 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
dbSNP: rs1057518681
rs1057518681
PUF60 ; SCRIB
7 0.827 0.200 8 143816821 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
5 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
dbSNP: rs1554641549
rs1554641549
PUF60 ; SCRIB
3 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0