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: rs213273
rs213273
HDAC9
5 1.000 7 18464885 intron variant G/A snv 0.96 0.700 1.000 1 2014 2014
dbSNP: rs608114
rs608114
LOC107986626
5 0.925 6 95928822 intron variant A/T snv 0.95 0.700 1.000 1 2015 2015
dbSNP: rs801350
rs801350 		5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
dbSNP: rs1777672
rs1777672
NBEA
4 1.000 13 35603682 intron variant G/A snv 0.94 0.800 1.000 1 2009 2009
dbSNP: rs6576462
rs6576462
MKRN3
5 1.000 15 23569519 non coding transcript exon variant C/T snv 0.93 0.700 1.000 1 2019 2019
dbSNP: rs2800778
rs2800778
PBX1
5 1.000 1 164652278 intron variant T/G snv 0.91 0.700 1.000 1 2019 2019
dbSNP: rs2578673
rs2578673
LARS2
5 1.000 3 45527650 intron variant T/C snv 0.90 0.700 1.000 1 2019 2019
dbSNP: rs3094609
rs3094609
HCG27
5 0.925 0.080 6 31197789 non coding transcript exon variant T/C snv 0.86 0.89 0.700 1.000 1 2010 2010
dbSNP: rs2905722
rs2905722
MICB-DT
5 0.925 0.120 6 31481550 intron variant A/G snv 0.88 0.700 1.000 1 2010 2010
dbSNP: rs2523612
rs2523612
HLA-B
4 1.000 6 31353346 intron variant G/T snv 0.88 0.700 1.000 1 2010 2010
dbSNP: rs7381988
rs7381988
HLA-B
4 1.000 6 31278926 intron variant G/A snv 0.87 0.700 1.000 1 2010 2010
dbSNP: rs1514687
rs1514687
TPO
5 1.000 2 1434216 intron variant T/G snv 0.86 0.700 1.000 1 2014 2014
dbSNP: rs3132488
rs3132488
HLA-B
4 1.000 6 31274918 intron variant G/T snv 0.85 0.700 1.000 1 2010 2010
dbSNP: rs12532102
rs12532102
CDCA7L
5 1.000 7 21927090 intron variant A/G snv 0.82 0.700 1.000 1 2019 2019
dbSNP: rs6457374
rs6457374
HLA-B ; LOC112267902
9 0.851 0.200 6 31304484 intron variant C/T snv 0.81 0.700 1.000 2 2009 2010
dbSNP: rs3130542
rs3130542 		8 0.827 0.160 6 31264334 downstream gene variant A/G snv 0.81 0.700 1.000 1 2009 2009
dbSNP: rs2247056
rs2247056
HLA-B ; LINC02571 ; LOC112267902
11 0.882 0.160 6 31297713 intron variant T/C snv 0.80 0.700 1.000 1 2009 2009
dbSNP: rs3134899
rs3134899
MICB
4 1.000 6 31505509 intron variant C/T snv 0.80 0.700 1.000 2 2009 2010
dbSNP: rs2789845
rs2789845
VAV2
5 1.000 9 133934793 intron variant C/T snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs2523578
rs2523578 		5 1.000 6 31360765 upstream gene variant G/A snv 0.79 0.700 1.000 1 2010 2010
dbSNP: rs3132553
rs3132553
CDSN ; PSORS1C1
4 1.000 6 31117423 synonymous variant A/G snv 0.75 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3132552
rs3132552
CDSN ; PSORS1C1
4 1.000 6 31117492 synonymous variant A/G snv 0.76 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3132546
rs3132546
CDSN ; PSORS1C1
4 1.000 6 31120802 intron variant A/G snv 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3130984
rs3130984
CDSN ; PSORS1C1
4 1.000 6 31117187 missense variant T/C snv 0.76; 4.0E-06 0.78 0.700 1.000 1 2010 2010
dbSNP: rs3130558
rs3130558
PSORS1C1
5 0.925 0.080 6 31129406 intron variant C/G snv 0.77 0.700 1.000 1 2010 2010