Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994095
POLG ; MIR6766
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 21
rs77375493
INSL6 ; JAK2
0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 10
rs1554967681
SCYL1
0.925 0.040 11 65525631 stop gained C/T snv 3
rs1554969925
SCYL1
0.925 0.040 11 65535999 missense variant A/G snv 3
rs1554970375
SCYL1
0.925 0.040 11 65537051 stop gained C/T snv 3
rs942522644
SCYL1
0.925 0.040 11 65525982 missense variant C/T snv 8.0E-06 7.0E-06 3
rs11554495
KRT8
0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 2
rs1562849964
RINT1
0.925 0.160 7 105550262 missense variant T/C snv 2
rs1554967761
SCYL1
1.000 0.040 11 65525924 stop gained G/T snv 2
rs28942074
ATP7B
0.851 0.240 13 51958333 missense variant C/A;T snv 1.4E-04; 3.2E-05 1
rs369698072
NBAS
0.925 0.040 2 15238670 missense variant C/A;T snv 2.8E-05 1
rs886037843
POLG2 ; MILR1
0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06 1