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: rs10195252
rs10195252
COBLL1
7 0.925 0.080 2 164656581 intron variant T/C snv 0.48 0.800 1.000 5 2010 2019
dbSNP: rs1294421
rs1294421
LOC101928004
2 1.000 0.040 6 6742916 upstream gene variant T/A;C;G snv 0.800 1.000 4 2010 2019
dbSNP: rs1294410
rs1294410
LOC101928004
3 6 6738519 intron variant T/C snv 0.65 0.800 1.000 3 2013 2019
dbSNP: rs1443512
rs1443512 		4 12 53948900 downstream gene variant A/C;T snv 0.800 1.000 3 2010 2018
dbSNP: rs1011731
rs1011731
PIGC ; DNM3
4 1 172377408 intron variant G/A snv 0.46 0.800 1.000 2 2010 2015
dbSNP: rs1055144
rs1055144
LOC100506236
3 1.000 0.040 7 25831489 non coding transcript exon variant C/T snv 0.16 0.800 1.000 2 2010 2018
dbSNP: rs13389219
rs13389219
COBLL1
9 1.000 0.080 2 164672366 intron variant C/T snv 0.47 0.800 1.000 2 2013 2019
dbSNP: rs4823006
rs4823006
ZNRF3
5 22 29055683 3 prime UTR variant A/G snv 0.41 0.800 1.000 2 2010 2019
dbSNP: rs6861681
rs6861681
CPEB4
1 5 173935455 intron variant G/A snv 0.22 0.800 1.000 2 2010 2018
dbSNP: rs6905288
rs6905288 		9 0.882 0.120 6 43791136 downstream gene variant G/A snv 0.56 0.800 1.000 2 2010 2019
dbSNP: rs718314
rs718314
LOC105369705
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.800 1.000 2 2010 2018
dbSNP: rs9491696
rs9491696
RSPO3
2 6 127131494 intron variant C/G snv 0.45 0.800 1.000 2 2010 2015
dbSNP: rs984222
rs984222
TBX15
3 1 118961220 intron variant C/A;G snv 0.800 1.000 2 2010 2019
dbSNP: rs10894604
rs10894604
OPCML
1 11 132771851 non coding transcript exon variant T/G snv 0.26 0.800 1.000 1 2013 2013
dbSNP: rs17213965
rs17213965
MYH11
1 16 15788110 intron variant C/T snv 0.24 0.800 1.000 1 2013 2013
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.800 1.000 1 2009 2009
dbSNP: rs2076529
rs2076529
BTNL2 ; TSBP1-AS1
2 1.000 0.120 6 32396178 synonymous variant T/C snv 0.41 0.39 0.800 1.000 1 2010 2010
dbSNP: rs2820464
rs2820464
LYPLAL1-AS1
1 1 219519878 intergenic variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs4846567
rs4846567 		1 1 219577375 regulatory region variant G/T snv 0.23 0.800 1.000 1 2010 2010
dbSNP: rs6784615
rs6784615
NISCH
2 1.000 0.080 3 52472410 intron variant C/T snv 0.96 0.96 0.800 1.000 1 2010 2010
dbSNP: rs6795735
rs6795735
ADAMTS9-AS2
7 0.882 0.120 3 64719689 intron variant C/A;G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs6931262
rs6931262
RREB1
1 6 7217284 non coding transcript exon variant C/T snv 0.10 0.800 1.000 1 2013 2013
dbSNP: rs7745274
rs7745274
RSPO3 ; LOC112267972
1 6 127188012 intron variant G/A snv 0.56 0.800 1.000 1 2013 2013
dbSNP: rs1045241
rs1045241
TNFAIP8
6 1.000 0.120 5 119393591 3 prime UTR variant C/T snv 0.30 0.700 1.000 3 2015 2019
dbSNP: rs10462028
rs10462028
CLOCK ; TMEM165
4 0.882 0.120 4 55432133 3 prime UTR variant G/A snv 0.28 0.700 1.000 3 2018 2019