Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 14
rs142433332
DARS2
0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 14
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 14
rs2230288
GBA
0.776 0.160 1 155236376 missense variant C/T snv 1.0E-02 1.0E-02 11
rs1557551678
CLDN19
0.882 0.160 1 42738421 missense variant C/A snv 9
rs880315
CASZ1
0.925 0.120 1 10736809 intron variant T/C snv 0.32 9
rs11206510 0.763 0.240 1 55030366 intergenic variant T/A;C;G snv 8
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 7
rs17030613
CAPZA1
1 112648185 intron variant A/C snv 0.19 7
rs17367504
MTHFR
1.000 0.040 1 11802721 intron variant A/G snv 0.14 7
rs1801133
MTHFR
0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 6
rs2131925
DOCK7
1 62560271 intron variant G/T snv 0.57 5
rs2274700
CFH
0.776 0.240 1 196713817 synonymous variant G/A;C;T snv 0.44 5
rs3790604
WNT2B
1 112504257 intron variant C/A snv 7.8E-02 5
rs10776752
WNT2B
1 112501706 intron variant G/T snv 8.8E-02 4
rs12129649
MOV10
1 112688881 5 prime UTR variant G/T snv 6.6E-02 4
rs2004776
AGT
1 230712956 intron variant C/G;T snv 4
rs2144300
GALNT2
0.882 0.040 1 230159169 intron variant C/T snv 0.44 4
rs2932538
MOV10
1 112673921 intron variant A/C;G snv 4
rs699
AGT
0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 4
rs10745332
CAPZA1
1 112646431 intron variant G/A snv 0.77 3
rs12046278
CASZ1
1 10739520 intron variant T/C snv 0.36 3
rs12063100 1 188865413 downstream gene variant G/A;T snv 3
rs17111503
PCSK9
0.925 0.160 1 55037775 upstream gene variant A/G snv 0.22 3
rs17465637
MIA3
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 3