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: rs2664521
rs2664521
PREX1
1 20 48636612 stop gained T/A;C snv 0.98 0.700 1.000 1 2019 2019
dbSNP: rs10283100
rs10283100
ENPP2
3 8 119583783 missense variant A/G;T snv 0.96 0.700 1.000 1 2019 2019
dbSNP: rs2276749
rs2276749
VGLL4
1 3 11601991 missense variant T/A;C snv 8.5E-06; 0.93 0.700 1.000 1 2019 2019
dbSNP: rs35381162
rs35381162
HMGA1
1 6 34243565 intron variant T/- delins 0.90 0.86 0.700 1.000 1 2019 2019
dbSNP: rs10739700
rs10739700
ST6GALNAC4
1 9 127909942 intron variant C/A;T snv 2.4E-05; 0.89 0.700 1.000 1 2019 2019
dbSNP: rs514328
rs514328
KCNN4
1 19 43776685 non coding transcript exon variant G/A;C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs1150781
rs1150781
HMGA1 ; SMIM29
2 6 34246545 missense variant C/A;G snv 9.0E-06; 0.85 0.700 1.000 2 2011 2019
dbSNP: rs422421
rs422421
FGFR4
2 5 177090325 intron variant T/C snv 0.83 0.79 0.700 1.000 3 2010 2017
dbSNP: rs1560710
rs1560710
SLC44A2
1 19 10631767 intron variant C/A;G;T snv 4.0E-06; 0.79 0.700 1.000 1 2019 2019
dbSNP: rs2302759
rs2302759
CYLD ; LOC105371251
2 1.000 0.040 16 50793690 intron variant A/C;G snv 4.0E-06; 0.79 0.700 1.000 1 2019 2019
dbSNP: rs3206824
rs3206824
DKK3
6 0.827 0.160 11 11964514 missense variant T/C snv 0.78 0.78 0.700 1.000 1 2019 2019
dbSNP: rs10091130
rs10091130
ASAP1
1 8 130361641 non coding transcript exon variant C/G;T snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs210621
rs210621
DCBLD1
1 6 117548328 synonymous variant G/A;C;T snv 0.75; 6.7E-06 0.700 1.000 1 2019 2019
dbSNP: rs939105
rs939105
LARGE2
1 11 45927983 synonymous variant C/T snv 0.75 0.71 0.700 1.000 1 2019 2019
dbSNP: rs4369638
rs4369638
ADAMTS17
1 15 100254158 synonymous variant C/T snv 0.75 0.76 0.700 1.000 1 2019 2019
dbSNP: rs1801253
rs1801253
ADRB1
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.700 1.000 1 2019 2019
dbSNP: rs1801222
rs1801222
CUBN
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.700 1.000 1 2019 2019
dbSNP: rs154001
rs154001
FBN2
3 1.000 0.040 5 128349443 missense variant C/G;T snv 0.73 0.700 1.000 2 2019 2019
dbSNP: rs10761129
rs10761129
ROR2
1 9 91724039 missense variant C/T snv 0.72 0.71 0.700 1.000 1 2019 2019
dbSNP: rs3014240
rs3014240
CCDC17
1 1 45623553 splice region variant C/G snv 0.70 0.73 0.700 1.000 1 2019 2019
dbSNP: rs4969471
rs4969471
CENPX
1 17 82019937 intron variant C/G;T snv 0.70; 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs2289125
rs2289125
NOX4
2 11 89491285 5 prime UTR variant A/C snv 0.69 0.61 0.700 1.000 2 2019 2019
dbSNP: rs6415788
rs6415788
GLIS3
4 9 4118111 missense variant G/T snv 0.67 0.62 0.700 1.000 1 2017 2017
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2019 2019
dbSNP: rs1786263
rs1786263
CEP192
1 18 13116433 missense variant G/A;T snv 4.0E-06; 0.66 0.700 1.000 1 2019 2019