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: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs786205232
rs786205232
5 0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs80338777
rs80338777
10 0.827 0.200 1 201077915 missense variant C/A;T snv 1.2E-05 0.010 1.000 1 2000 2000
dbSNP: rs80356727
rs80356727
3 0.925 0.080 1 11022400 missense variant C/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1057518839
rs1057518839
MPZ
4 1.000 1 161305924 missense variant A/C snv 0.700 0
dbSNP: rs139194636
rs139194636
6 0.882 0.240 1 119033203 missense variant T/C snv 6.4E-05 2.3E-04 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: rs757600616
rs757600616
6 0.882 0.240 1 119033279 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs781939614
rs781939614
11 0.851 0.240 1 145916914 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs781984979
rs781984979
11 0.851 0.240 1 145912346 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs34016896
rs34016896
3 0.925 0.080 3 161275076 regulatory region variant C/T snv 0.28 0.010 1.000 1 2018 2018
dbSNP: rs35986369
rs35986369
2 1.000 0.040 3 19950975 frameshift variant -/GG delins 0.010 1.000 1 2004 2004
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 < 0.001 1 2010 2010
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.020 1.000 2 2003 2004
dbSNP: rs1564282
rs1564282
GAK
3 1.000 0.040 4 858525 intron variant C/T snv 8.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs4292394
rs4292394
2 4 69107231 synonymous variant C/G snv 0.56 0.59 0.010 1.000 1 2012 2012
dbSNP: rs6600879
rs6600879
1 4 69094669 intron variant C/G snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs6600880
rs6600880
1 4 69094762 intron variant T/A snv 0.58 0.010 1.000 1 2012 2012
dbSNP: rs6600893
rs6600893
2 4 69113183 downstream gene variant T/C snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs7439366
rs7439366
16 0.752 0.320 4 69098620 missense variant T/C snv 0.56 0.57 0.010 1.000 1 2012 2012
dbSNP: rs138008832
rs138008832
8 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2017 2017