Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 49
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs104894396
GJB2
0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 21
rs1815739
ACTN3
0.763 0.240 11 66560624 stop gained C/T snv 0.37 3
rs10736303
FGFR2
0.882 0.120 10 121574943 intron variant G/A snv 0.40 1