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: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
FGFR3
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.700 0
dbSNP: rs4647924
rs4647924
FGFR3
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs115137622
rs115137622
HLA-DPA3 ; HCG24 ; LOC105375021
1 1.000 0.080 6 33143124 intron variant C/G snv 0.700 1.000 1 2019 2019
dbSNP: rs3132461
rs3132461 		1 1.000 0.080 6 31512891 upstream gene variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs4396968
rs4396968
GABRB1
1 1.000 0.080 4 47087167 intron variant T/C snv 0.85 0.700 1.000 1 2017 2017
dbSNP: rs59661306
rs59661306
ADGRV1 ; LUCAT1
1 1.000 0.080 5 91087644 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs6547598
rs6547598
TCF7L1
1 1.000 0.080 2 85219363 intron variant A/G snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs6812281
rs6812281 		1 1.000 0.080 4 179391655 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs73730372
rs73730372 		1 1.000 0.080 6 32616804 regulatory region variant C/T snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs7457728
rs7457728
LINC01445
1 1.000 0.080 7 54380269 intron variant G/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs9532669
rs9532669 		1 1.000 0.080 13 40927414 downstream gene variant A/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs997363
rs997363
C2orf83
2 0.925 0.080 2 227644742 intron variant C/T snv 0.64 0.700 1.000 1 2014 2014
dbSNP: rs1003897973
rs1003897973
TRIP10 ; LOC107985302
3 0.882 0.080 19 6746039 missense variant C/G snv 0.010 < 0.001 1 2002 2002
dbSNP: rs1007541
rs1007541
FSHR
4 0.882 0.080 2 48981895 intron variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1030389
rs1030389
PWAR6 ; SNHG14
3 0.882 0.080 15 25032641 non coding transcript exon variant A/G snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
25 0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38 0.010 1.000 1 2009 2009
dbSNP: rs10426502
rs10426502
MYDGF ; TNFAIP8L1
3 0.882 0.080 19 4651257 intron variant G/A snv 6.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1042725
rs1042725
HMGA2
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1045935
rs1045935
PWAR6 ; SNHG14
3 0.882 0.080 15 25036439 non coding transcript exon variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2012 2012