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: rs6478241
rs6478241
ASTN2
3 0.925 0.040 9 116490350 intron variant A/G;T snv 0.810 1.000 3 2013 2016
dbSNP: rs9349379
rs9349379
PHACTR1
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.810 1.000 3 2013 2016
dbSNP: rs11172113
rs11172113
LRP1
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.800 1.000 2 2013 2016
dbSNP: rs4379368
rs4379368
SUGCT
3 0.925 0.040 7 40426601 intron variant C/T snv 0.12 0.720 1.000 3 2013 2019
dbSNP: rs10166942
rs10166942
TRPM8
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.710 1.000 2 2013 2019
dbSNP: rs10504861
rs10504861
LOC105375629 ; LOC105375630
3 0.925 0.040 8 88535703 intron variant C/T snv 0.23 0.710 1.000 2 2013 2017
dbSNP: rs12134493
rs12134493 		4 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 0.710 1.000 2 2013 2017
dbSNP: rs1024905
rs1024905 		2 1.000 0.040 12 4408974 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs11759769
rs11759769
FHL5
2 1.000 0.040 6 96617336 downstream gene variant G/A snv 0.18 0.700 1.000 1 2013 2013
dbSNP: rs17301853
rs17301853
RABGAP1L
2 1.000 0.040 1 174583673 intron variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs2078371
rs2078371 		2 1.000 0.040 1 115134562 regulatory region variant T/C snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs3781545
rs3781545
GFRA1
1 1.000 0.040 10 116189948 intron variant G/A snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs488884
rs488884
LINC02109 ; LOC107986410
2 1.000 0.040 5 29040014 intron variant T/G snv 0.55 0.700 1.000 1 2013 2013
dbSNP: rs655484
rs655484
DLG2
1 1.000 0.040 11 84472392 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs6724624
rs6724624 		1 1.000 0.040 2 233911933 intergenic variant C/G snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs6741751
rs6741751
TRPM8
3 0.925 0.040 2 233919016 intron variant G/A snv 7.8E-02 0.700 1.000 1 2013 2013
dbSNP: rs7075426
rs7075426
WAPL
2 1.000 0.040 10 86456645 intron variant G/A snv 0.48 0.700 1.000 1 2013 2013
dbSNP: rs7775721
rs7775721
FHL5
1 1.000 0.040 6 96609103 intron variant C/T snv 0.40 0.700 1.000 1 2016 2016
dbSNP: rs9490306
rs9490306 		2 1.000 0.040 6 121495733 intergenic variant C/A snv 0.15 0.700 1.000 1 2013 2013
dbSNP: rs28933696
rs28933696
NOTCH3
5 0.882 0.160 19 15192134 missense variant G/A snv 0.700 0
dbSNP: rs2651899
rs2651899
PRDM16 ; LOC105378606
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.040 0.750 4 2014 2020
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2013 2013
dbSNP: rs2195450
rs2195450
GRIA1
3 0.925 0.040 5 153491449 intron variant G/A snv 0.17 0.020 0.500 2 2014 2015
dbSNP: rs2274316
rs2274316
MEF2D
3 0.925 0.040 1 156476450 intron variant C/A snv 0.62 0.54 0.020 0.500 2 2017 2017
dbSNP: rs941298
rs941298
STX1A ; MIR4284
2 1.000 0.040 7 73710933 intron variant G/A snv 0.28 0.020 1.000 2 2010 2012