Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11300320 14 87950752 intron variant AA/-;A;AAA delins 0.96 1
rs2266788 0.763 0.440 11 116789970 3 prime UTR variant G/A snv 0.93 1
rs6471482 1.000 0.120 8 86667075 stop gained A/C;T snv 0.89 0.89 1
rs6449213 0.827 0.240 4 9992591 intron variant C/T snv 0.82 1
rs1670533 4 1084399 intron variant G/A snv 0.82 1
rs3735819 8 11748803 intron variant T/C snv 0.80 1
rs1107946 1.000 0.040 17 50203629 intron variant A/C snv 0.80 1
rs2435357
RET
0.790 0.240 10 43086608 intron variant T/C snv 0.79 2
rs7574865 0.574 0.720 2 191099907 intron variant T/G snv 0.79 1
rs1051931 0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79 1
rs20541 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 2
rs3127334 1.000 6 166160758 intron variant G/A snv 0.77 1
rs759330 1.000 0.080 1 156243466 3 prime UTR variant G/A snv 0.75 1
rs10800598 1.000 0.040 1 198900385 non coding transcript exon variant T/C snv 0.74 1
rs10800597 1.000 0.040 1 198898955 non coding transcript exon variant G/A snv 0.72 1
rs60639710 1.000 0.040 1 198898549 non coding transcript exon variant G/T snv 0.72 1
rs2070744 0.608 0.680 7 150992991 intron variant C/T snv 0.70 1
rs1800872 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 1
rs2010963 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 1
rs1260326 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 1
rs2124437 1.000 0.080 2 33457670 intron variant G/T snv 0.66 1
rs2239704 0.732 0.320 6 31572364 5 prime UTR variant A/C snv 0.64 1
rs1061170
CFH
0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 2
rs2073711 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 1
rs2165241 0.716 0.360 15 73929861 intron variant T/C snv 0.60 1