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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.080 0.750 8 2003 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 1.000 7 2000 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.030 0.667 3 2003 2008
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121434595
rs121434595
NRAS
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
NRAS
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs145738773
rs145738773
CASP9
1 1.000 0.160 1 15504663 synonymous variant G/A snv 4.4E-05 1.0E-04 0.010 1.000 1 2008 2008
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.010 1.000 1 2007 2007
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2018 2018
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs2235544
rs2235544
DIO1
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs2297480
rs2297480
FDPS
4 0.851 0.280 1 155309691 non coding transcript exon variant T/G snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs4351714
rs4351714
KDM5B
1 1.000 0.160 1 202791530 intron variant T/C snv 0.61 0.010 1.000 1 2019 2019
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 2009 2009
dbSNP: rs8192284
rs8192284
IL6R
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs6746082
rs6746082
DTNB ; DTNB-AS1
1 1.000 0.160 2 25436375 intron variant A/C;T snv 0.810 1.000 3 2011 2014
dbSNP: rs7577599
rs7577599
DTNB
1 1.000 0.160 2 25390277 intron variant T/C snv 0.26 0.800 1.000 3 2011 2016
dbSNP: rs6546183
rs6546183
DTNB
1 1.000 0.160 2 25448937 intron variant G/A;T snv 0.700 1.000 2 2011 2013
dbSNP: rs1006752
rs1006752
DTNB ; DTNB-AS1
1 1.000 0.160 2 25441122 intron variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs10180663
rs10180663
DTNB
1 1.000 0.160 2 25410373 intron variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2009 2009