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: rs768823392
rs768823392
SPG7
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 1.000 13 2012 2017
dbSNP: rs1555801872
rs1555801872
RYR1
2 19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 0.700 1.000 12 1973 2013
dbSNP: rs1553317028
rs1553317028
SPAST
2 1.000 2 32128440 inframe deletion CTT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs1554086554
rs1554086554
KCNN2
1 5 114404815 inframe deletion TAT/- delins 0.700 1.000 21 1999 2016
dbSNP: rs121907960
rs121907960
HEXA
3 1.000 0.120 15 72349148 inframe deletion GAA/- delins 0.700 1.000 11 1986 2011
dbSNP: rs587776537
rs587776537
SETX
2 1.000 0.080 9 132346304 inframe deletion AGA/- delins 0.700 1.000 4 2004 2009
dbSNP: rs1468358104
rs1468358104
FLVCR1 ; FLVCR1-DT
3 1 212858454 start lost T/C snv 3.7E-05 0.700 1.000 6 1997 2016
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
2 1 212858455 start lost G/T snv 1.4E-05 0.700 1.000 6 1997 2016
dbSNP: rs1555911098
rs1555911098
EP300
1 22 41168719 splice acceptor variant A/G snv 0.700 1.000 19 1963 2016
dbSNP: rs1131691608
rs1131691608
DDX3X
2 1.000 X 41346503 splice acceptor variant A/G snv 0.700 1.000 16 1989 2017
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 1.000 16 1994 2013
dbSNP: rs1554397774
rs1554397774
KCTD7
1 7 66633273 splice acceptor variant A/G snv 0.700 1.000 10 2005 2016
dbSNP: rs1554008611
rs1554008611
CTNND2
1 5 11236825 splice acceptor variant T/C snv 0.700 1.000 8 2003 2017
dbSNP: rs397517076
rs397517076
CBL
3 0.925 0.160 11 119278165 splice acceptor variant G/C;T snv 0.700 1.000 7 2010 2017
dbSNP: rs1553417206
rs1553417206
EXOC6B
2 1.000 2 72465341 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691712
rs1131691712
CACNA1A
1 19 13286952 frameshift variant -/A delins 4.2E-06 0.700 1.000 46 1988 2017
dbSNP: rs1382415023
rs1382415023
SON
3 1.000 21 33554945 frameshift variant GAAA/- delins 0.700 1.000 28 1988 2016
dbSNP: rs1555899177
rs1555899177
SON
4 1.000 21 33554005 frameshift variant ACTC/- del 0.700 1.000 28 1988 2016
dbSNP: rs1554776842
rs1554776842
STXBP1
1 9 127660080 frameshift variant C/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777375
rs1554777375
STXBP1
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554777919
rs1554777919
STXBP1
2 9 127669950 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1554778941
rs1554778941
STXBP1
2 9 127682485 frameshift variant G/- delins 0.700 1.000 27 1998 2016
dbSNP: rs1553270522
rs1553270522
ZBTB18
3 1.000 1 244054804 frameshift variant GATGA/- delins 0.700 1.000 26 1997 2017
dbSNP: rs1553631783
rs1553631783
CTNNB1
2 3 41233416 frameshift variant G/- delins 0.700 1.000 22 1991 2017
dbSNP: rs1553732126
rs1553732126
ADCY5
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017