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: rs1131691712
rs1131691712
CACNA1A
1 19 13286952 frameshift variant -/A delins 4.2E-06 0.700 1.000 46 1988 2017
dbSNP: rs1554777375
rs1554777375
STXBP1
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554122458
rs1554122458
SYNGAP1
2 6 33444450 frameshift variant -/A delins 0.700 1.000 18 2004 2017
dbSNP: rs886041185
rs886041185
VPS13B
4 0.925 0.320 8 99835295 frameshift variant -/A delins 0.700 1.000 12 1998 2015
dbSNP: rs782061187
rs782061187
SURF1
2 1.000 9 133351945 frameshift variant -/A delins 4.0E-06 0.700 1.000 7 1998 2016
dbSNP: rs1555902810
rs1555902810
RBFOX2
4 1.000 22 35781685 frameshift variant -/A delins 0.700 1.000 6 2005 2016
dbSNP: rs1555801872
rs1555801872
RYR1
2 19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 0.700 1.000 12 1973 2013
dbSNP: rs1553259529
rs1553259529
MPZ
3 1.000 1 161306152 frameshift variant -/C delins 0.700 1.000 14 1998 2015
dbSNP: rs1554314738
rs1554314738
CCN6
1 6 112069431 frameshift variant -/C delins 0.700 1.000 5 2012 2018
dbSNP: rs1553732126
rs1553732126
ADCY5
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs1554236054
rs1554236054
ARID1B
3 1.000 6 157201481 frameshift variant -/G delins 0.700 1.000 20 1984 2017
dbSNP: rs1555851216
rs1555851216
ZNF335
1 20 45967790 frameshift variant -/G delins 0.700 1.000 5 2009 2016
dbSNP: rs1555732987
rs1555732987
KMT2B
1 19 35732782 frameshift variant -/GCACGCCTCCTTCGGGGCCAGG delins 0.700 1.000 9 1999 2017
dbSNP: rs1554884733
rs1554884733
VPS13B
3 1.000 8 99641974 frameshift variant -/GTCC delins 0.700 1.000 12 1998 2015
dbSNP: rs1555923822
rs1555923822
TCF20
3 1.000 22 42210236 frameshift variant -/T delins 0.700 1.000 7 2007 2017
dbSNP: rs1156904586
rs1156904586
ATP8A2
3 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 2012 2017
dbSNP: rs1554820931
rs1554820931
SETX
1 9 132328198 frameshift variant -/T delins 0.700 1.000 4 2004 2009
dbSNP: rs1555046615
rs1555046615
KMT2A
3 1.000 11 118503389 frameshift variant A/- del 0.700 1.000 22 1989 2017
dbSNP: rs1554129039
rs1554129039
PURA
3 1.000 5 140114334 frameshift variant A/- del 0.700 1.000 17 1991 2018
dbSNP: rs1554822175
rs1554822175
SETX
1 9 132331387 frameshift variant A/- delins 0.700 1.000 4 2004 2009
dbSNP: rs1554260888
rs1554260888
EYA4
2 1.000 6 133456594 frameshift variant A/- del 0.700 1.000 3 2005 2016
dbSNP: rs1456336365
rs1456336365
PDE6A
1 5 149898502 frameshift variant A/- delins 7.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs762093523
rs762093523
NDUFAF6
1 8 95045546 frameshift variant A/-;AA delins 4.0E-06 0.700 1.000 3 2008 2016
dbSNP: rs746882521
rs746882521
PIGN
4 0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 0.700 1.000 11 1999 2016
dbSNP: rs886041877
rs886041877
PTEN
4 1.000 10 87894025 missense variant A/C;G snv 0.700 1.000 14 2001 2015