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 0.030 1.000 3 2011 2020
dbSNP: rs776095655
rs776095655
SLC2A1
8 0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 0.700 1.000 3 2011 2015
dbSNP: rs1130183
rs1130183
KCNJ10
6 0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02 0.020 1.000 2 2005 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2018 2020
dbSNP: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs115466046
rs115466046
KCNJ10
2 1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs140646329
rs140646329
KCNJ10
2 1 160042283 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs150594290
rs150594290
ALPL
3 1.000 0.080 1 21575894 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs1799821
rs1799821
CPT2
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 2014 2014
dbSNP: rs2229291
rs2229291
CPT2
8 0.827 0.200 1 53210729 missense variant T/G snv 2.3E-02 1.5E-02 0.010 1.000 1 2014 2014
dbSNP: rs386834034
rs386834034
TSPAN1 ; POMGNT1
9 0.790 0.240 1 46194853 stop gained G/A;T snv 2.0E-05 0.700 1.000 1 2016 2016
dbSNP: rs558269137
rs558269137
FLG ; FLG-AS1
8 0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 0.700 1.000 1 2006 2006
dbSNP: rs746487237
rs746487237
LAMC2
1 1 183208049 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs786204473
rs786204473
ALPL
4 0.925 0.080 1 21573673 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs80356726
rs80356726
TARDBP
12 0.763 0.120 1 11022352 splice acceptor variant G/A snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs869312822
rs869312822
GNB1
8 0.827 0.200 1 1806514 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312823
rs869312823
GNB1
9 0.882 0.080 1 1806509 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312824
rs869312824
GNB1
14 0.827 0.200 1 1804565 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs869312825
rs869312825
GNB1
11 0.827 0.120 1 1804548 start lost T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs869312826
rs869312826
GNB1
6 0.882 0.080 1 1787378 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518821
rs1057518821
SLC2A1
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
7 0.851 0.280 1 102915626 splice region variant C/T snv 0.700 0
dbSNP: rs1135401733
rs1135401733
HNRNPU
3 1.000 0.040 1 244856757 stop gained G/A snv 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0