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: rs11988795
rs11988795
TRPA1 ; MSC-AS1
1 8 72037366 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1200746244
rs1200746244
MTHFR
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
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 2012 2012
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913274
rs121913274
PIK3CA
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913365
rs121913365
BRAF
10 0.776 0.320 7 140753332 missense variant T/A;G snv 0.010 1.000 1 2004 2004
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: rs1288779666
rs1288779666
CYP2D6 ; NDUFA6-DT ; LOC112268294
2 1.000 0.120 22 42128944 missense variant C/G snv 0.010 1.000 1 2009 2009
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: rs13080116
rs13080116
SCN11A
2 3 38865732 intron variant T/C snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs13093031
rs13093031 		2 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs13361160
rs13361160 		2 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 0.800 1.000 1 2013 2013
dbSNP: rs1378978590
rs1378978590
NGFR ; LOC100288866 ; MIR6165
1 17 49510504 stop gained C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs138105638
rs138105638
CYP3A4
3 7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05 0.010 1.000 1 2018 2018
dbSNP: rs138607170
rs138607170
SCN11A
4 0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1536309
rs1536309
MIR146B
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1555735545
rs1555735545
STRN4 ; FKRP
22 0.851 0.160 19 46746071 5 prime UTR variant G/A snv 0.700 0
dbSNP: rs1571138
rs1571138 		1 1 46429969 upstream gene variant A/G snv 0.73 0.010 1.000 1 2016 2016