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: 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: rs11059094
rs11059094
MLXIP
1 1.000 0.040 12 122122290 intron variant C/T snv 0.51 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: rs115740542
rs115740542
H2AC6 ; H2BC4
2 0.925 0.040 6 26123274 intron variant T/C snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs11583641
rs11583641
COLGALT2
1 1.000 0.040 1 183937111 3 prime UTR variant C/A;T snv 0.22 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: rs12040949
rs12040949
RPRD2
1 1.000 0.040 1 150474986 3 prime UTR variant C/A;T 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: rs1330349
rs1330349
TNC ; DELEC1
1 1.000 0.040 9 115078463 intron variant G/A;C 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: rs1913707
rs1913707 		2 0.925 0.040 4 13037816 intergenic variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
dbSNP: rs2275913
rs2275913
IL17A
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2396502
rs2396502
RUNX2
1 1.000 0.040 6 45389962 intron variant A/C snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs2820443
rs2820443 		8 0.882 0.120 1 219580167 regulatory region variant T/C snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs2836618
rs2836618 		1 1.000 0.040 21 38676371 intergenic variant G/A;T snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs2929451
rs2929451 		1 1.000 0.040 8 9227785 intron variant A/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs2953013
rs2953013
NF1
2 0.925 0.040 17 31169325 intron variant C/A snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs34419890
rs34419890 		1 1.000 0.040 11 66734153 upstream gene variant T/C snv 4.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs34687269
rs34687269
ASTN2
1 1.000 0.040 9 116721853 intron variant A/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs3774354
rs3774354
ITIH1
3 0.882 0.080 3 52783659 intron variant G/A snv 0.31 0.700 1.000 1 2019 2019