Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs104894107
FXN
0.882 0.160 9 69064942 missense variant G/C;T snv 3.6E-05; 2.8E-05 1
rs104894699
KCNC3
0.925 0.120 19 50323694 missense variant C/T snv 1
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1057518936
PNPLA6
0.925 0.120 19 7541025 missense variant C/G snv 3
rs1057518965
ATM
0.882 0.320 11 108244812 frameshift variant A/- delins 5
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 14
rs1057520918
CACNA1A
0.790 0.160 19 13262780 missense variant C/T snv 7
rs1064797245
ATP1A3
0.776 0.280 19 41970540 missense variant G/A snv 4
rs1114167423
APTX
0.882 0.240 9 32984704 stop gained T/A snv 6
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs113994097
POLG
0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 5
rs11538758
PRNP
0.882 0.160 20 4699534 missense variant C/A;T snv 2
rs118204095
HMBS
1.000 0.160 11 119091414 missense variant G/A;T snv 4.5E-05 1
rs118204096
HMBS
1.000 0.160 11 119091432 missense variant G/A snv 1
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 3
rs121908212
CACNA1A
0.732 0.160 19 13303877 missense variant G/A snv 5
rs121908214
CACNA1A
0.925 0.080 19 13230185 missense variant T/G snv 1
rs121908217
CACNA1A
0.851 0.120 19 13308452 missense variant C/T snv 4.0E-06 3
rs121908225
CACNA1A
0.790 0.120 19 13365448 missense variant G/A snv 2
rs121908230
CACNA1A
0.882 0.080 19 13262789 missense variant C/T snv 1
rs121908681
PLA2G6
0.851 0.160 22 38120867 missense variant T/C;G snv 2.4E-05 7
rs121918100
TTR
0.827 0.160 18 31595184 missense variant T/C snv 2