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: rs199476144
rs199476144
ND1 ; TRNV
3 0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 0.700 0
dbSNP: rs387907300
rs387907300
POMGNT2
3 1.000 3 43080959 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs730882206
rs730882206
WDR81
3 0.925 0.080 17 1725804 missense variant G/A snv 0.700 0
dbSNP: rs730882220
rs730882220
FAM20C
3 1.000 0.080 7 256001 missense variant C/T snv 7.1E-06 0.700 0
dbSNP: rs730882228
rs730882228
SPDL1
1 5 169604102 inframe deletion CAAGCAAATTGGAAAAAGAAACTT/- delins 0.700 0
dbSNP: rs730882230
rs730882230
FBN2
3 1.000 0.080 5 128408688 missense variant C/T snv 0.700 0
dbSNP: rs886039791
rs886039791
TXNDC15
5 0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 0.700 0
dbSNP: rs886039792
rs886039792
TXNDC15
9 0.807 0.280 5 134874531 splice donor variant G/A snv 0.700 0
dbSNP: rs886039805
rs886039805
CEP290
5 0.925 0.120 12 88129872 frameshift variant AA/- delins 0.700 0
dbSNP: rs886039806
rs886039806
KIAA0586
8 0.851 0.160 14 58467887 missense variant T/A;C;G snv 0.700 0