Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs141322087
ABCC8
0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 13
rs1421405659
MYBPC1
0.851 0.360 12 101642529 missense variant T/C;G snv 13
rs1344172059
ABCC8
0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 12
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs1555564126
EFTUD2
0.882 0.320 17 44853306 frameshift variant C/- delins 9
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs773223403
ABCA3
1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06 3
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 3