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: rs2001144
rs2001144
OSTM1
1 1.000 0.040 6 108086458 intron variant A/C snv 0.25 0.700 1.000 1 2017 2017
dbSNP: rs2073380
rs2073380
PCNT
2 0.925 0.040 21 46443844 missense variant A/C snv 0.22 0.18 0.010 1.000 1 2009 2009
dbSNP: rs2286798
rs2286798
ITIH1
2 1.000 0.040 3 52787161 intron variant A/C snv 0.38 0.37 0.700 1.000 1 2013 2013
dbSNP: rs2307220
rs2307220
PAWR
1 1.000 0.040 12 79592094 3 prime UTR variant A/C snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs2546057
rs2546057 		3 1.000 0.040 19 33829949 intergenic variant A/C snv 0.41 0.800 1.000 1 2013 2013
dbSNP: rs2709370
rs2709370 		4 0.851 0.120 2 207517878 intron variant A/C snv 0.17 0.010 < 0.001 1 2018 2018
dbSNP: rs346005
rs346005 		1 1.000 0.040 4 52588572 downstream gene variant A/C snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs4074723
rs4074723
SOX5
1 1.000 0.040 12 23794803 intron variant A/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs4687638
rs4687638
PBRM1
1 1.000 0.040 3 52617950 intron variant A/C snv 0.33 0.700 1.000 1 2013 2013
dbSNP: rs4765904
rs4765904
CACNA1C ; CACNA1C-AS4
1 1.000 0.040 12 2223227 intron variant A/C snv 0.36 0.700 1.000 1 2011 2011
dbSNP: rs4971040
rs4971040 		1 1.000 0.040 1 151394018 intergenic variant A/C snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs56403421
rs56403421 		2 1.000 0.040 18 55098052 regulatory region variant A/C snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs600011
rs600011
BBX
2 1.000 0.040 3 107576545 intron variant A/C snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs60545357
rs60545357
ATP5MG ; LOC100131626
1 1.000 0.040 11 118410703 intron variant A/C snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs66975207
rs66975207
LINC00240
1 1.000 0.040 6 26974367 non coding transcript exon variant A/C snv 5.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs72710803
rs72710803 		1 1.000 0.040 1 177458882 intron variant A/C snv 8.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs72788286
rs72788286
ATAD2B
2 1.000 0.040 2 23875451 intron variant A/C snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs72948529
rs72948529
ERBB4 ; MTND2P23
1 1.000 0.040 2 211777265 non coding transcript exon variant A/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs7296288
rs7296288
DHH
5 0.851 0.080 12 49086185 upstream gene variant A/C snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs77607745
rs77607745 		2 1.000 0.040 13 69001052 intergenic variant A/C snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs8321
rs8321
ZNRD1
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.700 1.000 1 2013 2013
dbSNP: rs9386694
rs9386694 		1 1.000 0.040 6 108025473 downstream gene variant A/C snv 0.45 0.700 1.000 1 2017 2017
dbSNP: rs9972552
rs9972552
PGBD4
2 1.000 0.040 15 34104712 3 prime UTR variant A/C snv 0.99 0.700 1.000 1 2019 2019
dbSNP: rs3793577
rs3793577
ELAVL2
1 1.000 0.040 9 23737629 intron variant A/C;G snv 0.700 1.000 2 2018 2019
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2015 2015