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: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.710 1.000 1 2018 2018
dbSNP: rs1557196978
rs1557196978
8 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1559810905
rs1559810905
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs116928232
rs116928232
9 0.827 0.120 10 89222511 missense variant C/G;T snv 1.2E-05; 9.1E-04 0.700 0
dbSNP: rs121908302
rs121908302
GBA
2 1.000 0.120 1 155240033 missense variant C/A snv 0.700 0
dbSNP: rs1556620697
rs1556620697
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1564875331
rs1564875331
HBB
4 0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins 0.700 0
dbSNP: rs267607093
rs267607093
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs397518423
rs397518423
10 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
dbSNP: rs483352897
rs483352897
9 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
dbSNP: rs529855742
rs529855742
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs747506979
rs747506979
GBA
4 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs748830051
rs748830051
7 0.827 0.160 3 33068940 stop gained C/T snv 1.6E-05 0.700 0
dbSNP: rs753520553
rs753520553
10 0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs757788894
rs757788894
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs794727931
rs794727931
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs80358263
rs80358263
7 0.827 0.280 14 74486378 stop gained G/T snv 8.4E-06 0.700 0
dbSNP: rs121912748
rs121912748
9 0.790 0.200 17 44253327 missense variant C/T snv 4.0E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.010 1.000 1 2006 2006
dbSNP: rs751689316
rs751689316
4 0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs770407719
rs770407719
3 0.925 0.080 10 89215021 missense variant G/A snv 1.6E-05 4.2E-05 0.010 1.000 1 1995 1995