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: rs104895358
rs104895358
MVK
2 12 109595148 missense variant G/A snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1060504185
rs1060504185
CDKN2A
1 9 21971116 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs1156401234
rs1156401234
DNM1L ; YARS2
1 12 32740421 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121912703
rs121912703
ACE
2 17 63496977 missense variant C/T snv 3.7E-05 4.9E-05 0.010 1.000 1 2006 2006
dbSNP: rs12765063
rs12765063
CREM ; CUL2
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs1334791875
rs1334791875
APP
1 21 25982369 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1365502141
rs1365502141
APP
1 21 26000017 missense variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs150450891
rs150450891
FTO
1 16 53826341 missense variant G/A snv 4.6E-04 5.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs202064075
rs202064075
CLCNKB
1 1 16048352 missense variant G/A snv 1.5E-04 7.7E-05 0.010 1.000 1 2014 2014
dbSNP: rs2161961
rs2161961
GNAL
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs402691
rs402691
PRKCG
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs539815495
rs539815495
PRKN
1 6 161973365 missense variant A/G snv 1.1E-04 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs566794487
rs566794487
CRY1
1 12 106997986 missense variant A/C snv 3.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs773857
rs773857
CPAMD8
1 19 16908042 intron variant C/T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs778899140
rs778899140
PDE10A
5 0.925 6 165450268 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs875989839
rs875989839
PDE10A
3 1.000 6 165450242 missense variant C/G snv 0.010 1.000 1 2016 2016
dbSNP: rs914655
rs914655
C9orf92
1 9 16208133 intron variant G/T snv 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs1170695
rs1170695
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11013652 5 prime UTR variant A/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1541665
rs1541665
KCNIP1
2 1.000 0.040 5 170715913 intron variant C/G;T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs2110267
rs2110267
DPP6
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2284411
rs2284411
GRIN2B
4 1.000 0.040 12 13713238 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs2303380
rs2303380
TTC12
2 1.000 0.040 11 113329987 splice region variant G/A snv 0.61 0.64 0.010 1.000 1 2017 2017
dbSNP: rs2944366
rs2944366
SLC6A1 ; SLC6A1-AS1
2 1.000 0.040 3 11011556 intron variant T/C snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs6191
rs6191
NR3C1
4 0.925 0.040 5 143278591 3 prime UTR variant C/A snv 0.48 0.010 1.000 1 2019 2019