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: rs771237928
rs771237928
NOTCH2
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1060502227
rs1060502227
SPAST
6 0.851 0.120 2 32136593 missense variant C/G;T snv 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs772887102
rs772887102
RARS2
9 0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 0.700 0
dbSNP: rs781417096
rs781417096
RARS2
9 0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1057520063
rs1057520063
GLI3
13 0.763 0.200 7 41964641 frameshift variant -/A delins 0.700 0
dbSNP: rs387907260
rs387907260
KCTD7
22 0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs796052686
rs796052686
KCTD7
22 0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs368313959
rs368313959
OTUD6B
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0
dbSNP: rs1060499548
rs1060499548
ABL1
27 0.724 0.440 9 130872961 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1564341846
rs1564341846
POMT1
8 0.790 0.280 9 131508926 missense variant C/A snv 0.700 0
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: rs113871094
rs113871094
FBN1
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs137854461
rs137854461
FBN1
12 0.790 0.280 15 48437026 missense variant T/C snv 0.700 0
dbSNP: rs137854466
rs137854466
FBN1
23 0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 0.700 0
dbSNP: rs397515804
rs397515804
FBN1
11 0.776 0.200 15 48472628 missense variant C/A;T snv 0.700 0
dbSNP: rs775011495
rs775011495
GLDN
5 0.925 0.040 15 51404403 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1247665387
rs1247665387
FA2H
14 0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 0.700 0
dbSNP: rs387907145
rs387907145
ROGDI
36 0.695 0.440 16 4800548 stop gained G/A snv 0.700 0
dbSNP: rs786205124
rs786205124
ROGDI
35 0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 0.700 0
dbSNP: rs1555743003
rs1555743003
ASXL3
58 0.701 0.520 18 33740444 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1555731819
rs1555731819
KMT2B
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs150168522
rs150168522
COL6A2
4 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0