Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060499555
rs1060499555
IRF6
3 0.925 0.200 1 209801301 missense variant A/G snv 0.700 0
dbSNP: rs1114167280
rs1114167280
ARHGAP29
2 1.000 1 94203995 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1114167281
rs1114167281
ARHGAP29
2 1.000 1 94189317 stop gained G/T snv 0.700 0
dbSNP: rs1114167282
rs1114167282
ARHGAP29
2 1.000 1 94184871 splice donor variant C/T snv 0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
dbSNP: rs387906271
rs387906271
CHD7
11 0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
dbSNP: rs765379963
rs765379963
TMCO1
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1332974507
rs1332974507
GREM1
2 0.925 0.120 15 32731180 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs761710147
rs761710147
MSX1
2 0.925 0.080 4 4862970 missense variant C/T snv 7.4E-05 2.1E-05 0.010 1.000 1 2016 2016