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: rs104886142
rs104886142
10 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
dbSNP: rs1057518797
rs1057518797
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0
dbSNP: rs1057518856
rs1057518856
5 0.882 0.240 16 2102397 missense variant A/T snv 0.700 0
dbSNP: rs1057518897
rs1057518897
3 0.925 0.120 16 2103746 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1057518899
rs1057518899
2 16 2111647 stop gained G/A snv 0.700 0
dbSNP: rs1057518903
rs1057518903
6 0.882 0.160 11 64807890 splice region variant C/- delins 0.700 0
dbSNP: rs1057518959
rs1057518959
2 16 2091794 missense variant A/G snv 0.700 0
dbSNP: rs1057523354
rs1057523354
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs118204456
rs118204456
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
dbSNP: rs1293789661
rs1293789661
7 0.827 0.080 3 184358062 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141498002
rs141498002
8 0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 0.700 0
dbSNP: rs142433332
rs142433332
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs148636776
rs148636776
18 0.790 0.280 12 111447491 missense variant G/A snv 1.5E-04 2.4E-04 0.700 0
dbSNP: rs1553201258
rs1553201258
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1553853557
rs1553853557
4 0.882 0.040 3 184346710 missense variant T/G snv 0.700 0
dbSNP: rs1553856214
rs1553856214
5 0.882 0.040 3 184356994 stop gained T/A snv 0.700 0
dbSNP: rs1553857113
rs1553857113
4 0.882 0.040 3 184359119 missense variant A/T snv 0.700 0
dbSNP: rs1555206402
rs1555206402
26 0.790 0.320 11 119093274 stop lost GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- delins 0.700 0
dbSNP: rs1557551678
rs1557551678
9 0.882 0.160 1 42738421 missense variant C/A snv 0.700 0
dbSNP: rs2230288
rs2230288
GBA
18 0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 0.700 0
dbSNP: rs281874674
rs281874674
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs312262690
rs312262690
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs530391015
rs530391015
5 0.882 0.080 14 104703445 stop gained G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs533297350
rs533297350
5 1.000 0.040 2 227010441 missense variant C/T snv 7.2E-05 3.5E-05 0.700 0
dbSNP: rs569681869
rs569681869
6 0.925 0.040 2 227059468 missense variant C/G snv 7.2E-05 3.5E-05 0.700 0