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: rs10947262
rs10947262
BTNL2 ; TSBP1-AS1
3 0.925 0.040 6 32405535 non coding transcript exon variant C/T snv 0.12 0.810 1.000 2 2010 2010
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.760 1.000 8 2011 2019
dbSNP: rs1078301
rs1078301
LOC105376225
1 1.000 0.040 9 114146866 intergenic variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs143384
rs143384
GDF5
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 2 2018 2019
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10190094
rs10190094
AGAP1
1 1.000 0.040 2 235709582 intron variant G/A snv 0.22 0.700 1.000 1 2018 2018
dbSNP: rs10492367
rs10492367 		3 0.882 0.040 12 27862037 regulatory region variant G/T snv 0.12 0.700 1.000 1 2019 2019
dbSNP: rs1060105
rs1060105
SBNO1
3 0.925 0.120 12 123321672 missense variant C/T snv 0.19 0.16 0.700 1.000 1 2018 2018
dbSNP: rs10758594
rs10758594
GLIS3
2 0.925 0.040 9 4295583 intron variant A/G snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs10948172
rs10948172
SUPT3H ; LOC101929770
3 0.882 0.040 6 44809954 intron variant A/G snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs11732213
rs11732213
SLBP
2 0.925 0.040 4 1702517 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs12193102
rs12193102
SUPT3H
2 0.925 0.040 6 45177665 intron variant C/G snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs12470967
rs12470967
LOC729254
2 0.925 0.040 2 191807255 intron variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs145965284
rs145965284
MAGI1
1 1.000 0.040 3 65812468 intron variant T/A snv 0.19 0.700 1.000 1 2017 2017
dbSNP: rs170205
rs170205
KIAA1217
1 1.000 0.040 10 24300978 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs17567417
rs17567417
LTBP1
2 1.000 0.040 2 33205536 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17659798
rs17659798
LINC02742
2 0.925 0.040 11 28853450 intron variant A/C snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs17887218
rs17887218
TGFBR3
2 0.925 0.040 1 91714361 intron variant C/T snv 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
dbSNP: rs2061026
rs2061026
LTBP1
1 1.000 0.040 2 33210282 intron variant A/G snv 0.52 0.700 1.000 1 2018 2018
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019