Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs63750459
ABCC6
0.851 0.320 16 16163110 missense variant G/A snv 6.8E-05 6.3E-05 13
rs1554386687
CAMK2B
0.882 0.040 7 44242328 missense variant C/T snv 12
rs1554122526
CAMK2A
0.882 0.040 5 150256811 missense variant A/G snv 9
rs1554402092
CAMK2B
1.000 7 44254555 missense variant C/T snv 8
rs397515360
CNGB3
0.807 0.160 8 86643781 frameshift variant G/- del 1.8E-03 8
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv 8
rs72664237
ABCC6
1.000 0.160 16 16154732 frameshift variant G/- del 2.8E-05 7
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs113331868
CAMK2A
5 150228191 splice donor variant C/A;T snv 6
rs1566528711
GJB2
0.851 0.240 13 20189338 missense variant T/C snv 6
rs386834261
RDH12 ; GPHN ; ZFYVE26
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 5
rs773970123
TYR ; LOC107984363
0.925 0.160 11 89227823 missense variant G/A;T snv 1.2E-05; 8.0E-06 3
rs1555955061
CHM
X 85965588 intron variant T/C snv 2
rs200805087
CNGB3
1.000 0.120 8 86579224 stop gained G/A snv 8.0E-06 7.0E-06 2
rs776896038
CNGB3
1.000 0.120 8 86632787 frameshift variant A/-;AA delins 4.0E-06 2
rs758291149
IMPG2
3 101244651 stop gained A/G;T snv 2.4E-05 2.1E-05 2
rs782362725
CACNA1F
X 49215088 stop gained G/A;T snv 5.5E-06 1
rs552069173
CNGA3
1.000 0.120 2 98396858 missense variant G/A snv 7.6E-05 3.5E-05 1
rs749036398
CNGA3
2 98377691 frameshift variant ACTC/- delins 1
rs111785373
FFAR4 ; RBP4
10 93600666 splice donor variant C/A;G;T snv 1
rs1553226355
GNAT2
1 109603513 stop gained G/T snv 1