Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1273330603
GJB2
1.000 0.080 13 20189094 missense variant A/G snv 2.8E-05 3
rs773223403
ABCA3
1.000 0.080 16 2319842 splice acceptor variant T/C snv 4.0E-06 3
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
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