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: rs149595793
rs149595793
DLG3
3 1.000 X 70492544 missense variant G/A snv 3.3E-05 6.6E-05 0.700 0
dbSNP: rs1568440440
rs1568440440
CACNA1A
3 0.925 0.120 19 13228767 stop gained GT/- delins 0.700 0
dbSNP: rs104894699
rs104894699
KCNC3
4 0.925 0.120 19 50323694 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057518011
rs1057518011
TMEM240
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs121908214
rs121908214
CACNA1A
4 0.925 0.080 19 13230185 missense variant T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs121918514
rs121918514
PRKCG
4 0.925 0.080 19 53889705 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1335702493
rs1335702493
APTX
4 0.925 0.200 9 32973507 stop gained C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs142157346
rs142157346
FXN
4 0.882 0.160 9 69053240 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs28933381
rs28933381
KCNA1
4 0.925 0.080 12 4912102 missense variant G/C snv 0.010 < 0.001 1 2013 2013
dbSNP: rs3512
rs3512
FAN1 ; MTMR10
4 0.925 0.160 15 30942802 3 prime UTR variant G/C snv 0.27 0.010 1.000 1 2020 2020
dbSNP: rs531630376
rs531630376
PCDH12
4 1.000 0.080 5 141955844 stop gained C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
4 0.925 0.200 9 133356441 start lost ACCGCCGCCATCGCACCCGGCCCC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1563945076
rs1563945076
APTX
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs1565339091
rs1565339091
HEPACAM ; LOC107984406
4 1.000 0.200 11 124924796 missense variant T/C snv 0.700 0
dbSNP: rs374434303
rs374434303
PNPLA6
4 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-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: rs80358243
rs80358243
MLC1
4 0.925 0.200 22 50083183 intron variant A/G;T snv 8.0E-06 0.700 0
dbSNP: rs121908230
rs121908230
CACNA1A
5 0.882 0.080 19 13262789 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs141659620
rs141659620
SPG7
5 0.882 0.160 16 89531961 missense variant G/A;C snv 8.3E-04; 8.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs201754030
rs201754030
TSFM
5 0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 0.010 1.000 1 2014 2014
dbSNP: rs267606695
rs267606695
CA8
5 1.000 0.160 8 60266044 missense variant A/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs58332872
rs58332872
NEFL
5 0.882 0.080 8 24956248 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs587777343
rs587777343
STUB1 ; JMJD8
5 0.925 0.120 16 682232 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs72547551
rs72547551
SPG7
5 0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 0.700 1.000 1 2016 2016