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: rs1356874787
rs1356874787
PANK2 ; PANK2-AS1
2 20 3889103 start lost G/A snv 6.7E-06 0.010 1.000 1 2017 2017
dbSNP: rs1373219981
rs1373219981
ATP13A2
2 1 17011736 start lost C/A snv 1.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs1405183655
rs1405183655
FA2H
2 16 74719132 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs201573646
rs201573646
MAD2L1BP
2 6 43640526 missense variant G/A snv 1.0E-04 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs369447743
rs369447743
METTL8 ; DCAF17
2 2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs746673818
rs746673818
COASY
2 17 42562625 start lost G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs764492939
rs764492939
COASY
2 17 42562414 start lost G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1057518805
rs1057518805
SYT2 ; LOC105371686
2 1 202596928 inframe deletion ATAGTC/- delins 0.700 0
dbSNP: rs117184249
rs117184249
SYNE1
3 1.000 0.120 6 152401278 missense variant C/T snv 9.3E-04 4.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs121908893
rs121908893
SLC22A5
3 1.000 0.160 5 132385435 stop gained C/A;T snv 5.3E-04; 1.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs750174047
rs750174047
DNAH8
3 1.000 0.080 6 38722964 missense variant A/T snv 8.2E-06 0.010 1.000 1 2019 2019
dbSNP: rs757725417
rs757725417
IMMT
3 2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs764959600
rs764959600
PLA2G6
3 1.000 0.040 22 38169424 start lost C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs772816537
rs772816537
TPM3
3 1.000 0.080 1 154173179 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1555420508
rs1555420508
CAPN3 ; LOC105370794
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs199474714
rs199474714
TPM3
4 0.925 0.080 1 154173113 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs75586164
rs75586164
SMN2
4 0.925 0.080 5 70070651 missense variant C/T snv 1.3E-04 0.010 < 0.001 1 2014 2014
dbSNP: rs760361706
rs760361706
PPARA
4 22 46235326 missense variant G/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs794728228
rs794728228
FBN1
4 0.925 0.160 15 48468064 stop gained G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs1057518957
rs1057518957
CHRND
4 1.000 0.040 2 232535143 missense variant G/T snv 0.700 0
dbSNP: rs1057518958
rs1057518958
CHRND
4 1.000 0.040 2 232531353 frameshift variant T/- del 0.700 0
dbSNP: rs746438011
rs746438011
SYNE1
4 0.882 0.120 6 152430672 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs781934508
rs781934508
SURF1
4 1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs121908211
rs121908211
CACNA1A
5 0.882 0.080 19 13371744 missense variant C/T snv 0.010 < 0.001 1 2005 2005