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: rs10902088
rs10902088
MUC2
2 1.000 0.040 11 1090036 non coding transcript exon variant T/C snv 0.73 0.700 1.000 1 2013 2013
dbSNP: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2013 2013
dbSNP: rs10936601
rs10936601
LRRC34
2 1.000 0.160 3 169810661 intron variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs11023590
rs11023590
LINC02689
1 11 1354730 intron variant C/T snv 0.54 0.700 1.000 1 2013 2013
dbSNP: rs11070270
rs11070270
IVD
1 15 40416223 intron variant A/G snv 0.68 0.61 0.700 1.000 1 2013 2013
dbSNP: rs11070272
rs11070272
IVD
1 15 40433064 intron variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs11858744
rs11858744 		1 15 85339833 regulatory region variant C/T snv 0.40 0.700 1.000 1 2013 2013
dbSNP: rs12373139
rs12373139
SPPL2C ; MAPT-AS1
4 0.925 0.120 17 45846764 missense variant G/A snv 0.15 0.14 0.700 1.000 1 2013 2013
dbSNP: rs12417955
rs12417955 		1 11 1262997 downstream gene variant A/G snv 0.55 0.54 0.700 1.000 1 2013 2013
dbSNP: rs12438724
rs12438724
ADAMTS7P4
1 15 85282062 intron variant C/T snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs12630450
rs12630450 		2 1.000 0.160 3 169762416 downstream gene variant A/G snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs12638862
rs12638862 		10 0.827 0.160 3 169759718 downstream gene variant A/G snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs12792005
rs12792005
KRTAP5-3
1 11 1608947 upstream gene variant G/A snv 3.0E-02 0.700 1.000 1 2013 2013
dbSNP: rs12914315
rs12914315
IVD
1 15 40421679 intron variant A/G snv 0.61 0.700 1.000 1 2013 2013
dbSNP: rs12914710
rs12914710
IVD
1 15 40421650 intron variant G/A snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs1317082
rs1317082
MYNN
6 0.882 0.200 3 169779797 non coding transcript exon variant A/G snv 0.21 0.700 1.000 1 2013 2013
dbSNP: rs1358904
rs1358904
DSP
1 6 7564228 intron variant C/T snv 0.31 0.700 1.000 1 2013 2013
dbSNP: rs1453184
rs1453184 		1 15 40437201 upstream gene variant A/G snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs169201
rs169201
NSF ; LRRC37A2
3 0.925 0.160 17 46712837 intron variant A/G snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs16941432
rs16941432
AKAP13
1 15 85559945 intron variant A/G snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs17563986
rs17563986
MAPT
4 1.000 0.040 17 45913906 intron variant A/G snv 0.14 0.700 1.000 1 2013 2013
dbSNP: rs1903003
rs1903003
FAM13A
4 0.925 0.080 4 88965146 intron variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1920120
rs1920120
MYNN
1 3 169784392 intron variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs1980653
rs1980653
STN1
1 10 103894406 intron variant A/G snv 0.44 0.700 1.000 1 2013 2013