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: rs1554777375
rs1554777375
STXBP1
2 9 127665304 frameshift variant -/A delins 0.700 1.000 27 1998 2016
dbSNP: rs1554226131
rs1554226131
ARID1B
2 1.000 6 157148899 frameshift variant -/A delins 0.700 1.000 20 1984 2017
dbSNP: rs1554122458
rs1554122458
SYNGAP1
2 6 33444450 frameshift variant -/A delins 0.700 1.000 18 2004 2017
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 1.000 17 1999 2013
dbSNP: rs1555392032
rs1555392032
SPRED1
3 1.000 15 38339805 frameshift variant -/A delins 0.700 1.000 14 1988 2013
dbSNP: rs1553212626
rs1553212626
POGZ
3 1.000 1 151406151 frameshift variant -/A delins 0.700 1.000 13 1999 2017
dbSNP: rs886041185
rs886041185
VPS13B
4 0.925 0.320 8 99835295 frameshift variant -/A delins 0.700 1.000 12 1998 2015
dbSNP: rs1057516904
rs1057516904
MCOLN1
3 0.925 0.160 19 7528881 frameshift variant -/A delins 0.700 1.000 11 1998 2016
dbSNP: rs1555902810
rs1555902810
RBFOX2
4 1.000 22 35781685 frameshift variant -/A delins 0.700 1.000 6 2005 2016
dbSNP: rs1555773554
rs1555773554
CIC
1 19 42294295 frameshift variant -/A delins 0.700 1.000 4 2010 2017
dbSNP: rs1462161137
rs1462161137
METTL23
3 1.000 17 76733042 frameshift variant -/A delins 7.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1555815437
rs1555815437
SPTBN4
2 1.000 19 40512839 frameshift variant -/AGCGGGCGGCGCGCATGACC delins 0.700 1.000 14 2000 2017
dbSNP: rs1555801872
rs1555801872
RYR1
2 19 38572152 inframe insertion -/ATGGTGTACTACTTC delins 0.700 1.000 12 1973 2013
dbSNP: rs1555533842
rs1555533842
NF1
3 1.000 17 31330303 frameshift variant -/C delins 0.700 1.000 34 1967 2017
dbSNP: rs1555985372
rs1555985372
PCDH19
2 1.000 X 100407591 frameshift variant -/C delins 0.700 1.000 16 2008 2017
dbSNP: rs1553259529
rs1553259529
MPZ
3 1.000 1 161306152 frameshift variant -/C delins 0.700 1.000 14 1998 2015
dbSNP: rs1557099144
rs1557099144
PHF8
3 1.000 X 53985131 frameshift variant -/C delins 0.700 1.000 7 2005 2014
dbSNP: rs1554120939
rs1554120939
SYNGAP1
2 1.000 6 33435269 frameshift variant -/CACA delins 0.700 1.000 18 2004 2017
dbSNP: rs1555046428
rs1555046428
KMT2A
2 1.000 11 118503078 frameshift variant -/CAGAT delins 0.700 1.000 22 1989 2017
dbSNP: rs1554852244
rs1554852244
FAS
1 10 89014158 frameshift variant -/CATG delins 0.700 1.000 9 1995 2016
dbSNP: rs1553732126
rs1553732126
ADCY5
2 3 123347875 frameshift variant -/G delins 0.700 1.000 22 1992 2017
dbSNP: rs1555321405
rs1555321405
FOXG1
2 1.000 14 28768359 frameshift variant -/G delins 0.700 1.000 15 1989 2017
dbSNP: rs1554818540
rs1554818540
RET
1 10 43111366 frameshift variant -/G delins 0.700 1.000 12 1994 2012
dbSNP: rs1554879633
rs1554879633
EHMT1
1 9 137778049 frameshift variant -/G delins 0.700 1.000 8 2005 2018