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: rs74315431
rs74315431
VAPB
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs748523454
rs748523454
SNRPN ; SNURF ; SNHG14
1 1.000 0.040 15 24975438 synonymous variant T/C snv 3.6E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs75586164
rs75586164
SMN2
4 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 1.000 1 1997 1997
dbSNP: rs763459583
rs763459583
MAPT
3 0.882 0.080 17 45987045 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs765672269
rs765672269
IGFALS ; SPSB3
5 0.851 0.120 16 1792338 stop gained C/A snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs77804083
rs77804083
SMN1 ; SMN2
3 0.882 0.080 5 70942389 stop gained G/A snv 0.010 1.000 1 2001 2001
dbSNP: rs80356547
rs80356547
UBA1 ; INE1 ; LOC105373194
2 0.925 0.120 X 47206103 synonymous variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs868010710
rs868010710
VRK1
4 0.851 0.080 14 96833502 missense variant A/G snv 0.010 1.000 1 2018 2018