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: rs1554817910
rs1554817910
ZMIZ1
4 1.000 10 79216266 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs1114167294
rs1114167294
FOXP4
4 0.925 6 41587455 frameshift variant T/- del 0.700 0
dbSNP: rs1559662068
rs1559662068
BRPF1
10 0.925 3 9741340 frameshift variant AG/T delins 0.700 0
dbSNP: rs724159948
rs724159948
DYRK1A ; LOC105372797
7 1.000 21 37490273 stop gained C/T snv 0.700 0
dbSNP: rs724159951
rs724159951
DYRK1A
6 21 37493101 missense variant T/C snv 0.700 0
dbSNP: rs724159952
rs724159952
DYRK1A ; LOC105372797
6 21 37490451 frameshift variant -/G delins 0.700 0
dbSNP: rs724159953
rs724159953
DYRK1A
7 1.000 21 37505352 stop gained C/T snv 0.700 0
dbSNP: rs724159954
rs724159954
DYRK1A ; LOC105372797
6 21 37490353 frameshift variant -/A delins 0.700 0
dbSNP: rs724159956
rs724159956
DYRK1A
6 21 37496249 frameshift variant -/G delins 0.700 0
dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
5 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
dbSNP: rs772037717
rs772037717
FBXL4
8 0.882 0.080 6 98875675 missense variant A/G snv 1.2E-05 1.4E-05 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: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1344172059
rs1344172059
ABCC8
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1380822792
rs1380822792
NAA15
7 0.882 0.080 4 139336933 frameshift variant CTTGA/- delins 0.700 0
dbSNP: rs1554641549
rs1554641549
PUF60 ; SCRIB
3 0.925 0.080 8 143816613 frameshift variant TGGCCTTATGA/- delins 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs527624522
rs527624522
EXT2
5 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 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: rs1554643142
rs1554643142
PUF60
4 0.925 0.120 8 143818042 frameshift variant CCTGCCCTATGTTGCTGGG/- delins 0.700 0
dbSNP: rs1555257073
rs1555257073
POMP
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs1559931177
rs1559931177
QRICH1
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
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