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: rs11709492
rs11709492
SCN11A
1 3 38904493 intron variant C/T snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs11720013
rs11720013
SCN11A
1 3 38924745 intron variant G/T snv 1.0E-01 0.010 1.000 1 2017 2017
dbSNP: rs11720988
rs11720988
SCN11A
1 3 38865054 intron variant G/A snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs1172682117
rs1172682117
ERG
1 21 38403690 synonymous variant T/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs11898284
rs11898284
SCN9A ; SCN1A-AS1
1 2 166325017 intron variant A/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs11988795
rs11988795
TRPA1 ; MSC-AS1
1 8 72037366 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12478318
rs12478318
SCN9A ; SCN1A-AS1
1 2 166277030 missense variant T/G snv 3.7E-02 1.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs12633508
rs12633508 		1 3 88765985 intergenic variant T/C snv 0.23 0.010 1.000 1 2018 2018
dbSNP: rs12654778
rs12654778
ADRB2
1 5 148826178 5 prime UTR variant G/A snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs1275569383
rs1275569383
SPNS1
1 16 28979446 missense variant C/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1277774683
rs1277774683
DNM2
1 19 10830162 missense variant A/C snv 4.0E-06 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1292843126
rs1292843126
SPNS1
1 16 28975269 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs12948783
rs12948783
RHBDF2
1 17 76503318 upstream gene variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1378978590
rs1378978590
NGFR ; LOC100288866 ; MIR6165
1 17 49510504 stop gained C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1571138
rs1571138 		1 1 46429969 upstream gene variant A/G snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs16970540
rs16970540
RFFL ; RAD51L3-RFFL
1 17 35011428 3 prime UTR variant C/T snv 0.10 0.010 1.000 1 2019 2019
dbSNP: rs17122021
rs17122021 		1 11 118274971 regulatory region variant C/A;T snv 0.800 1.000 1 2009 2009
dbSNP: rs17289394
rs17289394 		1 13 46899085 upstream gene variant G/A snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs179971
rs179971
ATXN1
1 6 16362511 intron variant C/T snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs200192163
rs200192163
TRPA1 ; MSC-AS1
1 8 72036453 missense variant C/A;G snv 1.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs2070697
rs2070697
CTSG
1 14 24574883 non coding transcript exon variant C/T snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs2211843
rs2211843
KCNJ6
1 21 37811882 intron variant G/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2236742
rs2236742
CTSG
1 14 24575924 intron variant C/T snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2383515
rs2383515 		1 1 186683820 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2756109
rs2756109
ABCC2
1 10 99798989 intron variant G/T snv 0.53 0.010 1.000 1 2012 2012