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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
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 2008 2008
dbSNP: rs61816761
rs61816761
FLG ; FLG-AS1
43 0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 0.700 0
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs773472534
rs773472534
OPA1 ; OPA1-AS1
2 0.925 0.120 3 193618885 synonymous variant G/A snv 2.8E-05 0.010 1.000 1 2018 2018
dbSNP: rs121909149
rs121909149
SH3BP2
2 0.925 0.160 4 2831573 missense variant G/A;C snv 0.020 1.000 2 2012 2014
dbSNP: rs312262690
rs312262690
ANTXR2
28 0.752 0.320 4 79984831 frameshift variant -/G;GG delins 1.7E-05 0.700 0
dbSNP: rs104893941
rs104893941
SQSTM1 ; MRNIP
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.010 1.000 1 2007 2007
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs587784177
rs587784177
NSD1
20 0.790 0.280 5 177283827 missense variant G/A snv 0.700 0
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs1057516036
rs1057516036
COL1A2
4 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs2073617
rs2073617
TNFRSF11B ; COLEC10
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs4355801
rs4355801 		5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs751093906
rs751093906
SLC20A2
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs759191907
rs759191907
ENG ; LOC105379841
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs121908668
rs121908668
LRP5
5 0.882 0.240 11 68357673 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs312009
rs312009
LRP5
2 0.925 0.080 11 68309770 upstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3736228
rs3736228
LRP5
13 0.752 0.400 11 68433827 missense variant C/T snv 0.13 0.11 0.010 1.000 1 2008 2008
dbSNP: rs4988321
rs4988321
LRP5
4 0.851 0.160 11 68406721 missense variant G/A;C snv 3.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs527624522
rs527624522
EXT2
5 0.925 0.080 11 44107723 missense variant C/T snv 6.4E-05 2.1E-05 0.700 0