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: rs1009298200
rs1009298200
ALG1
34 0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104893648
rs104893648
MYCN
4 0.882 0.320 2 15945883 missense variant G/A;T snv 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: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057518921
rs1057518921
MED12
7 1.000 X 71132465 missense variant G/A snv 0.700 0
dbSNP: rs1057518939
rs1057518939
VPS13B
9 1.000 0.040 8 99511424 frameshift variant A/- del 0.700 0
dbSNP: rs1057518961
rs1057518961
DYNC1H1
5 0.925 0.040 14 102012450 missense variant C/T snv 0.700 0
dbSNP: rs1057518980
rs1057518980
KIF11
3 0.925 0.120 10 92613446 frameshift variant ATAAATCAAT/- delins 0.700 0
dbSNP: rs1057519012
rs1057519012
EP300
2 1.000 22 41147864 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519436
rs1057519436
DHX30
7 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
dbSNP: rs1057524820
rs1057524820
SCN8A
33 0.776 0.280 12 51765746 missense variant G/A;T snv 0.700 0
dbSNP: rs1060499733
rs1060499733
DHX30
11 0.851 0.120 3 47846757 missense variant A/G snv 0.700 0
dbSNP: rs1060499740
rs1060499740
CINP
3 14 102348559 stop lost A/C snv 0.700 0
dbSNP: rs1060499757
rs1060499757
ASPM
1 1 197101677 frameshift variant CT/- delins 0.700 0
dbSNP: rs1060499758
rs1060499758
ASPM
1 1 197094079 splice region variant C/T snv 0.700 0
dbSNP: rs1060499759
rs1060499759
ATRX
2 1.000 X 77688879 missense variant A/T snv 0.700 0
dbSNP: rs1060499760
rs1060499760
ATRX
2 1.000 X 77683580 missense variant G/A snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1085307132
rs1085307132
PUF60 ; SCRIB
5 0.882 0.160 8 143817668 frameshift variant -/TTTT delins 0.700 0
dbSNP: rs1085307137
rs1085307137
PUF60
5 0.851 0.160 8 143818408 missense variant C/T snv 7.0E-06 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: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0