Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs727504557
LAMP2
X 120441824 frameshift variant T/- delins 1
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs587777587
RAF1
1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05 2
rs886040968
SLC12A2
1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 3
rs63750743
TMEM43
0.925 0.080 3 14141665 missense variant C/T snv 2
rs104894942
TAZ ; DNASE1L1
1.000 0.120 X 154413248 missense variant C/A;T snv 1
rs727504327
DNASE1L1 ; TAZ
1.000 0.120 X 154413544 missense variant G/A snv 2
rs727504431
TAZ
1.000 0.120 X 154420212 missense variant G/T snv 2
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins 2
rs387907218
TAZ
1.000 0.120 X 154420676 missense variant G/A;C snv 2
rs397515750
TAZ
X 154420948 stop gained C/T snv 1
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del 3
rs61046466
LMNA
1.000 0.120 1 156114934 stop gained C/T snv 2
rs397517895
LMNA
1 156115072 missense variant C/G snv 1
rs59270054
LMNA
0.925 0.120 1 156115162 missense variant G/A;C snv 2
rs794728602
LMNA
1.000 0.040 1 156115168 missense variant G/A snv 3
rs28933090
LMNA
0.925 0.160 1 156115172 missense variant T/A;G snv 1
rs267607646
LMNA
1.000 0.080 1 156115265 frameshift variant -/G delins 2
rs794728589
LMNA
1.000 0.080 1 156115275 splice donor variant G/A;C snv 2
rs794728597
LMNA
1 156130624 inframe deletion AAG/- delins 1
rs58917027
LMNA
1.000 0.120 1 156130708 missense variant A/C;G snv 1
rs876657650
LMNA
1 156130736 frameshift variant A/- del 1
rs28933093
LMNA
0.882 0.160 1 156130741 missense variant G/A snv 3
rs267607594
LMNA
0.925 0.120 1 156130745 missense variant T/C snv 1
rs397517904
LMNA
1 156130774 splice donor variant G/A;C;T snv 1