Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 52
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv 14
rs2070699
EDN1
0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 9
rs863224880
IGHMBP2
0.925 0.160 11 68906074 stop gained G/A snv 7
rs1057518588
IGHMBP2
0.851 0.160 11 68908632 splice donor variant G/A snv 1.2E-05 1.4E-05 6
rs104893851
MMAA
1.000 0.080 4 145639572 stop gained C/T snv 1.6E-04 1.7E-04 6
rs1565569158
ATN1
12 6939148 missense variant A/G snv 4
rs761964407
SERAC1
1.000 6 158114826 frameshift variant -/ATAG delins 1.5E-04 1.5E-04 4
rs773223403
ABCA3
1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06 3
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 3
rs1057518805
SYT2 ; LOC105371686
1 202596928 inframe deletion ATAGTC/- delins 2
rs121912823
CHAT
0.851 0.280 10 49627681 missense variant T/C snv 4.0E-06 1
rs118203918
CILK1
0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 1
rs721917
SFTPD
0.752 0.360 10 79946568 missense variant A/G snv 0.47 0.42 1