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: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs104894621
rs104894621
PMP22
9 0.790 0.080 17 15239575 missense variant G/A snv 0.700 1.000 20 1992 2015
dbSNP: rs869025195
rs869025195
RIT1
11 0.790 0.280 1 155904493 missense variant T/G snv 0.700 1.000 10 2010 2016
dbSNP: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 9 2007 2017
dbSNP: rs180177040
rs180177040
BRAF
9 0.790 0.360 7 140754187 missense variant T/C;G snv 0.700 1.000 8 1968 2013
dbSNP: rs387906660
rs387906660
BRAF
7 0.790 0.280 7 140801550 missense variant G/A;C;T snv 0.700 1.000 8 1968 2013
dbSNP: rs398123009
rs398123009
PACS1
19 0.790 0.200 11 66211206 missense variant C/T snv 7.0E-06 0.700 1.000 6 1998 2018
dbSNP: rs137852813
rs137852813
SOS1
11 0.807 0.200 2 39051202 missense variant A/C;G snv 0.700 1.000 21 2002 2016
dbSNP: rs61750241
rs61750241
MECP2
7 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 19 1993 2016
dbSNP: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.700 1.000 16 1995 2017
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 9 2001 2016
dbSNP: rs1555545033
rs1555545033
THRA
7 0.807 0.160 17 40088306 missense variant C/T snv 0.700 1.000 9 2012 2016
dbSNP: rs147484110
rs147484110
CSTB
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 1.000 8 2002 2017
dbSNP: rs180177042
rs180177042
BRAF
8 0.807 0.280 7 140749365 missense variant A/C;T snv 0.700 1.000 8 1968 2013
dbSNP: rs199469464
rs199469464
SRCAP
8 0.807 0.200 16 30737370 stop gained C/T snv 0.700 1.000 8 2012 2016
dbSNP: rs138119149
rs138119149
AARS2 ; TMEM151B
11 0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04 0.700 1.000 4 2011 2014
dbSNP: rs1555740650
rs1555740650
PRR12
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs886037945
rs886037945
CACNA1A
6 0.827 0.160 19 13303584 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs397507541
rs397507541
PTPN11
5 0.827 0.160 12 112489068 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 20 1968 2016
dbSNP: rs199821421
rs199821421
CREBBP
6 0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 0.700 1.000 18 1963 2017
dbSNP: rs80338797
rs80338797
RAF1
7 0.827 0.160 3 12584624 missense variant G/C;T snv 0.700 1.000 15 2006 2016
dbSNP: rs121908595
rs121908595
MAP2K1
8 0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06 0.700 1.000 12 2002 2017
dbSNP: rs104894003
rs104894003
ACTB
7 0.827 0.320 7 5528536 missense variant G/A snv 0.700 1.000 10 1999 2017
dbSNP: rs387907329
rs387907329
WDR45 ; PRAF2
10 0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 0.700 1.000 10 2010 2017