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: rs104894369
rs104894369
MYL2
10 0.807 0.080 12 110914287 missense variant C/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs1057518805
rs1057518805
SYT2 ; LOC105371686
2 1 202596928 inframe deletion ATAGTC/- delins 0.700 0
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: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1114167445
rs1114167445
SPTBN4
15 0.851 0.160 19 40504064 stop gained C/T snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs113994099
rs113994099
POLG
10 0.827 0.240 15 89320883 missense variant T/C snv 0.010 1.000 1 2007 2007
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: rs118192170
rs118192170
RYR1
6 0.882 0.120 19 38584989 missense variant T/A;C snv 0.020 1.000 2 2001 2002
dbSNP: rs121434589
rs121434589
MYH2 ; MYHAS
8 0.851 0.200 17 10535137 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1217391623
rs1217391623
SPG7
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 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
dbSNP: rs121908552
rs121908552
SCN4A ; LOC105371858
14 0.763 0.160 17 63964587 missense variant C/A;G;T snv 4.0E-06 0.700 0
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: rs121912438
rs121912438
SOD1
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2011
dbSNP: rs121912443
rs121912443
SOD1
15 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 1996 2007
dbSNP: rs121913003
rs121913003
DES
6 0.882 0.200 2 219421532 missense variant C/T snv 0.010 1.000 1 2004 2004
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1256028809
rs1256028809
RTTN
5 1.000 18 70030114 splice region variant A/T snv 4.0E-06 0.700 0
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: rs1373863123
rs1373863123
ACTB
4 1.000 0.080 7 5529540 missense variant G/A snv 0.010 1.000 1 2016 2016