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: rs1010549
rs1010549 		1 6 164071351 intergenic variant A/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs1010902
rs1010902
C4orf36
1 4 86898002 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1010903
rs1010903
C4orf36
1 4 86898040 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10109400
rs10109400 		1 8 42600210 intergenic variant T/C snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs1012898
rs1012898
CARMIL1
1 6 25604487 intron variant G/A snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs1013891
rs1013891
MYB ; LOC105378011
1 6 135217501 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1014021
rs1014021
HBS1L
1 6 135013462 intron variant A/G snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs1015149
rs1015149
TFEB
1 6 41691151 synonymous variant C/T snv 0.46 0.50 0.700 1.000 1 2012 2012
dbSNP: rs1015150
rs1015150
TFEB
1 6 41691566 intron variant C/T snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs1015670
rs1015670
DOT1L
1 19 2171491 intron variant G/A snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs10158848
rs10158848
RBBP5
1 1 205092064 intron variant C/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs1015890
rs1015890 		1 1 47236557 upstream gene variant G/A snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs10159477
rs10159477
HK1
3 10 69340132 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1016078
rs1016078
TMEM116
1 12 111972273 intron variant C/A snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs10168349
rs10168349
PRKCE
4 2 46133768 intron variant G/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs10183887
rs10183887
PRKCE
1 2 46134669 intron variant T/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs10184575
rs10184575
LOC105369165
1 2 53010234 intergenic variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs10184620
rs10184620
PRKCE
2 2 46131396 intron variant A/G snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs10189857
rs10189857
BCL11A
6 1.000 0.080 2 60486100 intron variant A/G snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs10198247
rs10198247
PRKCE
1 2 46135538 intron variant A/G snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs10207392
rs10207392
ACOXL ; MIR4435-2HG
2 2 111092082 intron variant A/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs10221243
rs10221243
KANSL1
1 17 46134944 intron variant G/A snv 0.23 0.700 1.000 1 2012 2012
dbSNP: rs10223506
rs10223506 		3 0.925 0.120 6 25626988 regulatory region variant T/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 1 2012 2012
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2012 2012