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: rs1554129113
rs1554129113
PURA
2 5 140114873 missense variant T/C snv 0.700 1.000 17 1991 2018
dbSNP: rs1554100923
rs1554100923
GABRG2
2 5 162149212 missense variant T/C snv 0.700 1.000 16 2001 2018
dbSNP: rs1553637932
rs1553637932
KIF1A
1 2 240783109 missense variant C/T snv 0.700 1.000 15 2011 2018
dbSNP: rs1553638309
rs1553638309
KIF1A
1 2 240785068 missense variant C/T snv 0.700 1.000 15 2011 2018
dbSNP: rs1555907034
rs1555907034
OFD1
2 X 13760532 frameshift variant T/- delins 0.700 1.000 14 2000 2016
dbSNP: rs767889331
rs767889331
LAMA1
2 18 7012105 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06 0.700 1.000 14 1981 2016
dbSNP: rs149474131
rs149474131
SPG7
1 16 89513008 stop gained C/A;G;T snv 4.0E-06; 5.7E-05; 4.9E-05 0.700 1.000 13 2012 2017
dbSNP: rs1553182964
rs1553182964
NFIA
2 1 61404170 frameshift variant ACTT/- delins 0.700 1.000 12 1999 2015
dbSNP: rs1553245178
rs1553245178
ATP1A2
1 1 160130548 missense variant G/A snv 0.700 1.000 12 1992 2017
dbSNP: rs1555349184
rs1555349184
NKX2-1 ; SFTA3 ; NKX2-1-AS1
2 14 36517659 frameshift variant GCACCCGG/- delins 0.700 1.000 12 1995 2017
dbSNP: rs1555349214
rs1555349214
NKX2-1 ; SFTA3 ; NKX2-1-AS1
2 14 36517838 frameshift variant G/- delins 0.700 1.000 12 1995 2017
dbSNP: rs1555801872
rs1555801872
RYR1
2 19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 0.700 1.000 12 1973 2013
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
1 16 8797935 missense variant C/G snv 1.7E-05 1.4E-05 0.700 1.000 12 1997 2017
dbSNP: rs1554059320
rs1554059320
RICTOR
1 5 38946521 frameshift variant T/- delins 0.700 1.000 11 1976 2015
dbSNP: rs1554380093
rs1554380093
AP4M1
1 7 100105098 missense variant G/A snv 0.700 1.000 11 2009 2015
dbSNP: rs1555162303
rs1555162303
TUBA1A
2 12 49185311 missense variant T/A snv 0.700 1.000 11 2007 2016
dbSNP: rs779340209
rs779340209
ADNP
1 20 50892501 stop gained G/C snv 0.700 1.000 11 2001 2017
dbSNP: rs796053403
rs796053403
TBC1D24
1 16 2496622 frameshift variant C/- delins 0.700 1.000 11 2014 2017
dbSNP: rs1554139771
rs1554139771
MEF2C
3 5 88804732 stop gained CA/- delins 0.700 1.000 10 2007 2016
dbSNP: rs1554397774
rs1554397774
KCTD7
1 7 66633273 splice acceptor variant A/G snv 0.700 1.000 10 2005 2016
dbSNP: rs1556213001
rs1556213001
CUL4B
1 X 120544122 stop gained C/A snv 0.700 1.000 10 2000 2017
dbSNP: rs1557084549
rs1557084549
WDR45
1 X 49078050 stop gained G/A snv 0.700 1.000 10 2010 2017
dbSNP: rs201296399
rs201296399
KCTD7
1 7 66633320 missense variant A/G snv 5.6E-05 4.9E-05 0.700 1.000 10 2005 2016
dbSNP: rs1553608726
rs1553608726
TRAK1
1 3 42201037 frameshift variant AG/- delins 0.700 1.000 9 2003 2017
dbSNP: rs1553676901
rs1553676901
CACNA1D
1 3 53776046 splice donor variant G/C snv 0.700 1.000 9 2000 2017