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: 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: rs10160596
rs10160596
EHBP1L1
3 11 65583893 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2016 2016
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: rs10192562
rs10192562
ZEB2
1 2 144426749 non coding transcript exon variant A/G snv 7.1E-02 0.700 1.000 1 2018 2018
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
dbSNP: rs1022491
rs1022491
ALDH8A1
1 6 134938228 intron variant C/T snv 0.60 0.700 1.000 1 2012 2012
dbSNP: rs1022506
rs1022506
MYB
2 6 135190449 intron variant G/A snv 0.10 0.700 1.000 1 2012 2012
dbSNP: rs10230385
rs10230385
IKZF1
1 7 50384854 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10232130
rs10232130
ZAN
1 7 100768580 intron variant C/G;T snv 0.34 0.37 0.700 1.000 1 2012 2012
dbSNP: rs10247962
rs10247962
TFR2
2 1.000 0.040 7 100622306 intron variant G/A snv 0.88 0.700 1.000 1 2012 2012
dbSNP: rs10247980
rs10247980
ZAN
1 7 100768661 missense variant T/C snv 0.35 0.38 0.700 1.000 1 2012 2012
dbSNP: rs10248903
rs10248903
IKZF1
1 7 50393986 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10254237
rs10254237
IKZF1
1 7 50389939 intron variant G/T snv 0.70 0.700 1.000 1 2012 2012