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: rs1036819
rs1036819
ZFAT ; ZFAT-AS1
2 0.925 0.120 8 134599702 non coding transcript exon variant A/C snv 0.11 0.720 1.000 3 2011 2020
dbSNP: rs2236479
rs2236479
SLC19A1 ; COL18A1
2 0.925 0.160 21 45499218 intron variant G/A snv 0.40 0.710 0.500 2 2011 2018
dbSNP: rs8027714
rs8027714
PWRN1
1 1.000 0.040 15 24719450 intron variant G/A snv 0.11 0.710 1.000 2 2011 2018
dbSNP: rs1950626
rs1950626
MEG8
1 1.000 0.040 14 100907636 intron variant A/G snv 0.84 0.710 1.000 1 2015 2015
dbSNP: rs28573326
rs28573326
CPE
1 1.000 0.040 4 165417176 intron variant A/G snv 0.31 0.710 1.000 1 2015 2015
dbSNP: rs10110287
rs10110287
LOC107986922
1 1.000 0.040 8 21629619 intergenic variant C/T snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs10160713
rs10160713 		1 1.000 0.040 11 97027237 intergenic variant A/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs11243354
rs11243354
DPP6
1 1.000 0.040 7 154587524 intron variant T/C snv 0.27 0.700 1.000 1 2015 2015
dbSNP: rs113872281
rs113872281
GUCA1C
1 1.000 0.040 3 108934985 intron variant T/G snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs139563135
rs139563135
FHAD1
1 1.000 0.040 1 15307321 intron variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs144039930
rs144039930
CRYM ; ANKS4B
1 1.000 0.040 16 21240939 intron variant C/T snv 5.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs1455311
rs1455311
LINC01088
2 0.925 0.160 4 79043433 intron variant A/G snv 0.14 0.700 1.000 1 2011 2011
dbSNP: rs1810636
rs1810636
LOC105372507
2 0.925 0.160 20 2674279 regulatory region variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs201058683
rs201058683 		1 1.000 0.040 5 26876559 downstream gene variant T/-;TT delins 0.700 1.000 1 2015 2015
dbSNP: rs2209875
rs2209875 		1 1.000 0.040 9 89198546 intergenic variant G/A snv 0.28 0.700 1.000 1 2015 2015
dbSNP: rs3850352
rs3850352
MIR217HG ; LOC105374690
1 1.000 0.040 2 56028361 intron variant T/C snv 0.63 0.700 1.000 1 2015 2015
dbSNP: rs430794
rs430794
LOC100507103
1 1.000 0.040 9 91090533 intron variant G/T snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs58823963
rs58823963
PTPRD
1 1.000 0.040 9 9550389 intron variant C/A snv 0.23 0.700 1.000 1 2015 2015
dbSNP: rs7035589
rs7035589
CT70
1 1.000 0.040 9 104990077 intron variant C/T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs7187140
rs7187140
LOC107984869
1 1.000 0.040 16 15917823 intergenic variant T/C snv 3.2E-02 0.700 1.000 1 2015 2015
dbSNP: rs73318770
rs73318770
STAU2
1 1.000 0.040 8 73450680 intron variant A/G snv 2.6E-02 0.700 1.000 1 2015 2015
dbSNP: rs740494
rs740494 		1 1.000 0.040 1 230509181 regulatory region variant C/G snv 0.18 0.700 1.000 1 2015 2015
dbSNP: rs9772809
rs9772809 		1 1.000 0.040 8 42803038 regulatory region variant T/A;C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1800255
rs1800255
COL3A1
5 0.851 0.160 2 188999354 missense variant G/A snv 0.25 0.21 0.030 0.333 3 2014 2020
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014