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: rs4826685
rs4826685 		1 X 3737519 intergenic variant A/C snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs139515
rs139515
RANGAP1
1 22 41260129 intron variant A/C;G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs178252
rs178252
LINC01637
1 22 20958141 intron variant G/A snv 0.61 0.700 1.000 1 2012 2012
dbSNP: rs2073748
rs2073748
ARVCF
1 22 19981448 missense variant G/A snv 0.38 0.36 0.700 1.000 1 2016 2016
dbSNP: rs5751761
rs5751761 		1 22 23901549 non coding transcript exon variant C/T snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs5754100
rs5754100
UBE2L3
5 0.882 22 21561877 intron variant T/C snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs5757611
rs5757611 		2 1.000 0.080 22 39312352 downstream gene variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs6006992
rs6006992
SMC1B
1 22 45346879 intron variant A/G snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs62237617
rs62237617
TTC28
3 22 28365160 intron variant C/G;T snv 1.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs713909
rs713909
CBX7
2 22 39136415 non coding transcript exon variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs714027
rs714027
HORMAD2
1 22 30181782 downstream gene variant A/G snv 0.45 0.700 1.000 1 2016 2016
dbSNP: rs748806
rs748806
GNB1L
1 22 19800213 intron variant C/T snv 0.12 0.700 1.000 1 2012 2012
dbSNP: rs7511534
rs7511534
PACSIN2
1 22 42976366 intron variant T/C snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs8141529
rs8141529
ZNRF3
1 22 28873704 intergenic variant A/G snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs10483084
rs10483084 		1 21 41975215 intergenic variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs1297255
rs1297255
LOC101927745
1 21 15432048 intron variant C/T snv 0.35 0.700 1.000 1 2016 2016
dbSNP: rs2032088
rs2032088
TTC3
1 21 37105030 intron variant G/A snv 0.66 0.700 1.000 1 2012 2012
dbSNP: rs2070433
rs2070433
DIP2A
1 21 46541473 intron variant G/A snv 0.19 0.700 1.000 1 2016 2016
dbSNP: rs2329577
rs2329577
AATBC
1 21 43807418 intron variant G/A snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs235386
rs235386 		1 21 44731486 intergenic variant C/T snv 4.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs243597
rs243597
C21orf91-OT1
1 21 17785722 intron variant C/G snv 0.48 0.700 1.000 1 2012 2012
dbSNP: rs2839168
rs2839168
MCM3AP ; MCM3AP-AS1
1 21 46241701 non coding transcript exon variant T/C snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs2839603
rs2839603
NDUFV3
1 21 42904396 intron variant T/C snv 6.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs11699044
rs11699044
RBM39
1 20 35724791 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs1883932
rs1883932
PLCB1 ; LOC105372521
2 20 8628941 intron variant A/T snv 0.58 0.700 1.000 1 2016 2016