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: rs1555188379
rs1555188379
KMT2D
1 12 49032761 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs1555205335
rs1555205335
TRPV4
1 12 109788404 missense variant A/C snv 0.700 1.000 24 1976 2017
dbSNP: rs1555393172
rs1555393172
DLL4
1 15 40936659 frameshift variant CGGACGACGGC/- delins 0.700 1.000 22 1996 2013
dbSNP: rs1554231814
rs1554231814
ARID1B
1 6 157184262 frameshift variant C/- del 0.700 1.000 20 1984 2017
dbSNP: rs1554603550
rs1554603550
CHD7
1 8 60850514 missense variant T/G snv 0.700 1.000 20 1999 2016
dbSNP: rs1554604059
rs1554604059
CHD7
1 8 60852866 frameshift variant AG/- delins 0.700 1.000 20 1999 2016
dbSNP: rs1554605030
rs1554605030
CHD7
1 8 60856559 frameshift variant -/T delins 0.700 1.000 20 1999 2016
dbSNP: rs1348892740
rs1348892740
NOTCH1
1 9 136523954 stop gained G/A snv 6.2E-06 0.700 1.000 19 1999 2019
dbSNP: rs1553706324
rs1553706324
SCN5A
1 3 38614067 splice acceptor variant C/G snv 0.700 1.000 19 1998 2014
dbSNP: rs1554826746
rs1554826746
NOTCH1
1 9 136499244 stop gained G/A snv 0.700 1.000 19 1999 2019
dbSNP: rs1555907749
rs1555907749
EP300
1 22 41131612 frameshift variant -/T delins 0.700 1.000 19 1963 2016
dbSNP: rs1555475250
rs1555475250
CREBBP
1 16 3744921 stop gained G/A snv 0.700 1.000 18 1963 2017
dbSNP: rs1555478331
rs1555478331
CREBBP
1 16 3757990 frameshift variant T/- del 0.700 1.000 18 1963 2017
dbSNP: rs1555984102
rs1555984102
DYRK1A ; LOC105372797
1 21 37490194 frameshift variant AT/- delins 0.700 1.000 18 1990 2016
dbSNP: rs1555564006
rs1555564006
EFTUD2
1 17 44852563 splice acceptor variant C/T snv 0.700 1.000 15 2006 2017
dbSNP: rs1553485330
rs1553485330
TTN ; TTN-AS1
1 2 178531129 frameshift variant C/- delins 0.700 1.000 14 1991 2014
dbSNP: rs1554787366
rs1554787366
COL27A1
1 9 114167926 frameshift variant T/- del 0.700 1.000 13 1994 2017
dbSNP: rs1554816354
rs1554816354
COL27A1
1 9 114252621 missense variant G/A snv 0.700 1.000 13 1994 2017
dbSNP: rs1555198839
rs1555198839
VWF
1 12 6062953 splice donor variant C/A snv 0.700 1.000 13 1987 2015
dbSNP: rs1554643463
rs1554643463
PUF60
1 8 143818387 frameshift variant T/- del 0.700 1.000 12 1999 2018
dbSNP: rs1556105875
rs1556105875
EFNB1
1 X 68838630 stop gained A/T snv 0.700 1.000 12 1996 2018
dbSNP: rs1556267123
rs1556267123
PLP1 ; RAB9B
1 X 103786627 frameshift variant AG/- del 0.700 1.000 12 1989 2016
dbSNP: rs753670589
rs753670589
IQCE
1 7 2593110 stop gained C/T snv 1.6E-05 7.0E-06 0.700 1.000 12 1986 2017
dbSNP: rs1064794957
rs1064794957
STAT3
1 17 42317182 missense variant G/A;C snv 0.700 1.000 11 2007 2018
dbSNP: rs1555162407
rs1555162407
TUBA1A
1 12 49185942 missense variant C/A;T snv 0.700 1.000 11 2007 2016