Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11988795
TRPA1 ; MSC-AS1
8 72037366 intron variant C/G;T snv 1
rs1200746244
MTHFR
0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 11
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs121908552
SCN4A ; LOC105371858
0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 14
rs121913274
PIK3CA
0.645 0.320 3 179218304 missense variant A/C;G;T snv 33
rs121913365
BRAF
0.776 0.320 7 140753332 missense variant T/A;G snv 10
rs12478318
SCN1A-AS1 ; SCN9A
2 166277030 missense variant T/G snv 3.7E-02 1.3E-02 1
rs12633508 3 88765985 intergenic variant T/C snv 0.23 1
rs12654778
ADRB2
5 148826178 5 prime UTR variant G/A snv 0.34 1
rs1275569383
SPNS1
16 28979446 missense variant C/G snv 7.0E-06 1
rs1277774683
DNM2
19 10830162 missense variant A/C snv 4.0E-06 2.1E-05 1
rs1288779666
NDUFA6-DT ; CYP2D6 ; LOC112268294
1.000 0.120 22 42128944 missense variant C/G snv 2
rs1292843126
SPNS1
16 28975269 missense variant G/A;C snv 1.6E-05 1
rs12948783
RHBDF2
17 76503318 upstream gene variant G/A;C;T snv 1
rs13080116
SCN11A
3 38865732 intron variant T/C snv 0.23 2
rs13093031 1.000 0.120 3 88809891 intergenic variant A/G snv 0.17 2
rs13361160 1.000 0.040 5 10169711 downstream gene variant T/C snv 0.34 2
rs1378978590
NGFR ; LOC100288866 ; MIR6165
17 49510504 stop gained C/T snv 1
rs138105638
CYP3A4
7 99766440 stop gained G/A;T snv 6.4E-05 7.7E-05 3
rs138607170
SCN11A
0.882 0.080 3 38925454 missense variant G/A snv 4.0E-06 1.4E-05 4
rs1445287184
LOC105369867 ; PTPRQ
1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 7
rs1536309
MIR146B
0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 7
rs1554781700
COL5A1
0.851 0.240 9 134701287 missense variant G/T snv 12
rs1555735545
STRN4 ; FKRP
0.851 0.160 19 46746071 5 prime UTR variant G/A snv 22
rs1571138 1 46429969 upstream gene variant A/G snv 0.73 1