Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs140614802
LOC107984670 ; ADSS1
0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 10
rs267607002
RBM20
1.000 0.040 10 110812303 missense variant C/A;T snv 2
rs267607004
RBM20
0.925 0.040 10 110812304 missense variant G/A snv 1.4E-05 4
rs267607003
RBM20
0.925 0.040 10 110812310 missense variant C/A;G;T snv 3
rs1564664312
RBM20
1.000 0.040 10 110821333 missense variant T/A snv 2
rs397516607
RBM20
0.925 0.040 10 110821356 missense variant G/A snv 3
rs727504859
RBM20
10 110821365 missense variant G/A snv 1
rs727504763
RBM20
10 110821880 frameshift variant CC/G delins 1
rs563762318
RBM20
10 110831154 missense variant G/A snv 2.8E-04 6.3E-05 1
rs143139258
MYL2
0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04 4
rs111033559
PLN ; CEP85L
0.925 0.040 6 118558946 missense variant C/T snv 3
rs397516784
CEP85L ; PLN
0.925 0.080 6 118558957 inframe deletion AGA/- delins 1.4E-05 4
rs111033560
PLN ; CEP85L
0.807 0.040 6 118559037 stop gained T/G snv 1.6E-05 7
rs727502897
BAG3
10 119651742 frameshift variant C/-;CC delins 1
rs1554875409
BAG3
10 119651752 stop gained G/A snv 1
rs727505283
BAG3
10 119651774 frameshift variant ACCGGCTG/- delins 1
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins 1
rs387906875
BAG3
0.925 0.080 10 119670037 stop gained C/T snv 8.0E-06 3
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv 3
rs869025365
BAG3
10 119672657 splice donor variant G/A snv 1
rs869248137
BAG3
0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 4
rs727505109
BAG3
1.000 10 119676617 frameshift variant C/- delins 2
rs730880055
BAG3
10 119676851 stop gained C/T snv 1
rs397516881
BAG3
0.827 0.120 10 119676917 missense variant G/A snv 3
rs727504597
LAMP2
1.000 0.160 X 120441803 frameshift variant A/- del 2