Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs1553630279
CTNNB1
0.807 0.160 3 41225049 stop gained C/T snv 7
rs145465528
LAMA2
0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 7
rs137853066
KCNJ10
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 6
rs1060502227
SPAST
0.851 0.120 2 32136593 missense variant C/G;T snv 6
rs1553878395
SEPSECS
0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 5