Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557315928
DMD
X 32380517 stop gained C/T snv 4
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del 3
rs387907218
TAZ
1.000 0.120 X 154420676 missense variant G/A;C snv 2
rs727504327
DNASE1L1 ; TAZ
1.000 0.120 X 154413544 missense variant G/A snv 2
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins 2
rs727504431
TAZ
1.000 0.120 X 154420212 missense variant G/T snv 2
rs727504597
LAMP2
1.000 0.160 X 120441803 frameshift variant A/- del 2
rs104894942
TAZ ; DNASE1L1
1.000 0.120 X 154413248 missense variant C/A;T snv 1
rs397515750
TAZ
X 154420948 stop gained C/T snv 1
rs727504557
LAMP2
X 120441824 frameshift variant T/- delins 1
rs749838192
SCO2 ; NCAPH2
22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 1
rs747321794
KCNE1
21 34449462 missense variant G/A snv 2.8E-05 1
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1114167453
PPP1R13L
1.000 19 45385569 stop gained G/C snv 4
rs397516352
TNNI3
19 55154115 missense variant A/G snv 1
rs397516355
TNNI3
19 55154035 stop gained C/A;T snv 1
rs397516356
TNNI3
19 55151917 missense variant C/T snv 1
rs397516706
DSG2-AS1 ; DSG2
0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 4
rs758537946
DSG2
18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 1
rs104894655
TCAP
0.925 0.120 17 39665762 stop gained C/T snv 1.4E-05 3
rs199476317
TPM1
0.827 0.080 15 63062263 missense variant G/A snv 4
rs397516373
TPM1
0.925 0.080 15 63059663 missense variant G/A snv 4
rs397516369
TPM1
1.000 15 63057081 missense variant C/G snv 2
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv 2
rs397517071
ACTC1 ; LOC101928174
1.000 0.040 15 34792092 missense variant A/G snv 2