Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387907218
rs387907218
TAZ
2 1.000 0.120 X 154420676 missense variant G/A;C snv 0.710 1.000 5 1973 2018
dbSNP: rs727504327
rs727504327
DNASE1L1 ; TAZ
2 1.000 0.120 X 154413544 missense variant G/A snv 0.700 1.000 2 2001 2011
dbSNP: rs104894942
rs104894942
DNASE1L1 ; TAZ
2 1.000 0.120 X 154413248 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1557194525
rs1557194525
TAZ
3 1.000 0.120 X 154420961 frameshift variant C/- del 0.700 0
dbSNP: rs1557315928
rs1557315928
DMD
4 X 32380517 stop gained C/T snv 0.700 0
dbSNP: rs397515750
rs397515750
TAZ
1 X 154420948 stop gained C/T snv 0.700 0
dbSNP: rs727504394
rs727504394
TAZ
2 1.000 0.120 X 154420666 frameshift variant TG/- delins 0.700 0
dbSNP: rs727504431
rs727504431
TAZ
2 1.000 0.120 X 154420212 missense variant G/T snv 0.700 0
dbSNP: rs727504557
rs727504557
LAMP2
1 X 120441824 frameshift variant T/- delins 0.700 0
dbSNP: rs727504597
rs727504597
LAMP2
2 1.000 0.160 X 120441803 frameshift variant A/- del 0.700 0
dbSNP: rs749838192
rs749838192
SCO2 ; NCAPH2
1 22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 0.700 1.000 1 2010 2010
dbSNP: rs11701453
rs11701453
RUNX1
1 21 34966619 intron variant C/A;G;T snv 0.700 1.000 1 2010 2010
dbSNP: rs747321794
rs747321794
KCNE1
1 21 34449462 missense variant G/A snv 2.8E-05 0.700 0
dbSNP: rs397516355
rs397516355
TNNI3
1 19 55154035 stop gained C/A;T snv 0.700 1.000 3 2012 2017
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2001 2001
dbSNP: rs397516356
rs397516356
TNNI3
1 19 55151917 missense variant C/T snv 0.700 1.000 1 2012 2012
dbSNP: rs535039125
rs535039125
CYP2B6
5 0.851 0.040 19 41004380 missense variant C/T snv 1.1E-04 1.3E-04 0.010 1.000 1 2012 2012
dbSNP: rs730881071
rs730881071
TNNI3
2 1.000 0.040 19 55154158 missense variant G/A snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs771753477
rs771753477
OPA3
1 19 45529234 missense variant A/C;G snv 4.1E-06; 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs1114167453
rs1114167453
PPP1R13L
4 1.000 19 45385569 stop gained G/C snv 0.700 0
dbSNP: rs397516352
rs397516352
TNNI3
1 19 55154115 missense variant A/G snv 0.700 0
dbSNP: rs397516706
rs397516706
DSG2 ; DSG2-AS1
4 0.925 0.080 18 31546441 frameshift variant AGAG/-;AG delins 0.700 1.000 3 2010 2013
dbSNP: rs758537946
rs758537946
DSG2
1 18 31531044 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2011 2013
dbSNP: rs200484060
rs200484060
DSG2
4 1.000 18 31536370 missense variant T/G snv 5.6E-05 1.4E-05 0.010 1.000 1 2018 2018