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: rs771610752
rs771610752
TH
3 0.925 0.040 11 2168614 stop gained G/A snv 6.2E-05 2.1E-05 0.700 1.000 3 2010 2017
dbSNP: rs104894003
rs104894003
ACTB
7 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121434410
rs121434410
PRKRA ; CHROMR
3 1.000 0.040 2 178436264 missense variant G/A snv 9.9E-05 9.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908683
rs121908683
PLA2G6
5 0.925 0.080 22 38115667 missense variant G/A snv 9.0E-06 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs139455627
rs139455627
TSPEAR
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs146087734
rs146087734
THAP1
2 8 42843038 synonymous variant G/A snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs1476648522
rs1476648522
TOR1A
2 9 129814009 missense variant G/A snv 8.0E-06; 1.2E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs397514477
rs397514477
C19orf12
5 0.925 0.080 19 29708415 missense variant G/A snv 8.0E-06 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs550921485
rs550921485
HPCA
3 1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs1057518942
rs1057518942
NPC1
2 1.000 0.160 18 23544424 missense variant G/A snv 0.700 0
dbSNP: rs150321966
rs150321966
ECHS1
3 0.925 0.040 10 133366990 missense variant G/A snv 2.6E-04 1.3E-04 0.700 0
dbSNP: rs1553547838
rs1553547838
SATB2
4 0.925 0.280 2 199328709 stop gained G/A snv 0.700 0
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs1554504684
rs1554504684
RHOBTB2
3 1.000 8 23007711 missense variant G/A snv 0.700 0
dbSNP: rs1561515242
rs1561515242
CAMK4
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs45471299
rs45471299
TH
2 1.000 0.040 11 2164339 missense variant G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs74315442
rs74315442
CSTB
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs754609693
rs754609693
ECHS1
3 0.925 0.040 10 133366967 missense variant G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs80358233
rs80358233
TOR1A
2 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 2 1997 1998
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.700 1.000 7 1998 2015
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2009 2015
dbSNP: rs727502811
rs727502811
TOR1A
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2009 2015
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
1 11 2171856 5 prime UTR variant C/T snv 7.0E-06 0.700 1.000 2 2007 2011