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: rs113331868
rs113331868
CAMK2A
6 5 150228191 splice donor variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554122526
rs1554122526
CAMK2A
9 0.882 0.040 5 150256811 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554123982
rs1554123982
CAMK2A
7 0.925 0.040 5 150273157 splice acceptor variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554385305
rs1554385305
CAMK2B
7 0.925 0.040 7 44241784 splice acceptor variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554386687
rs1554386687
CAMK2B
12 0.882 0.040 7 44242328 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
8 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
5 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 1.000 1 2004 2004
dbSNP: rs397515360
rs397515360
CNGB3
8 0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 0.700 1.000 1 2000 2000
dbSNP: rs552069173
rs552069173
CNGA3
2 1.000 0.120 2 98396858 missense variant G/A snv 7.6E-05 3.5E-05 0.700 1.000 1 2001 2001
dbSNP: rs565837539
rs565837539
RPGRIP1
1 14 21325861 missense variant G/A;C snv 1.6E-05; 2.0E-05 0.700 1.000 1 2013 2013
dbSNP: rs63750459
rs63750459
ABCC6
13 0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 0.700 1.000 1 2003 2003
dbSNP: rs72664237
rs72664237
ABCC6
7 1.000 0.160 16 16154732 frameshift variant G/- del 2.8E-05 0.700 1.000 1 2001 2001
dbSNP: rs758291149
rs758291149
IMPG2
2 3 101244651 stop gained A/G;T snv 2.4E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs773970123
rs773970123
TYR ; LOC107984363
3 0.925 0.160 11 89227823 missense variant G/A;T snv 1.2E-05; 8.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs111785373
rs111785373
RBP4 ; FFAR4
1 10 93600666 splice donor variant C/A;G;T snv 0.700 0
dbSNP: rs1553226355
rs1553226355
GNAT2
1 1 109603513 stop gained G/T snv 0.700 0
dbSNP: rs1555955061
rs1555955061
CHM
2 X 85965588 intron variant T/C snv 0.700 0
dbSNP: rs1555967263
rs1555967263
NYX
1 X 41474389 missense variant C/G snv 0.700 0
dbSNP: rs1556313474
rs1556313474
RP2
1 X 46837143 frameshift variant T/- del 0.700 0
dbSNP: rs1566528711
rs1566528711
GJB2
6 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0
dbSNP: rs200805087
rs200805087
CNGB3
2 1.000 0.120 8 86579224 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs397507517
rs397507517
PTPN11
8 0.827 0.160 12 112450497 missense variant A/C snv 0.700 0
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0