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: rs80356560
rs80356560
TIMM8A
1 1.000 0.280 X 101346595 missense variant G/C snv 0.800 1.000 4 2000 2002
dbSNP: rs80356559
rs80356559
TIMM8A
1 1.000 0.280 X 101348553 stop gained G/A snv 0.710 1.000 1 2007 2007
dbSNP: rs1054894
rs1054894
TIMM8A
1 1.000 0.280 X 101346555 stop gained G/A snv 0.700 0
dbSNP: rs111033631
rs111033631
TIMM8A
2 0.925 0.280 X 101348595 stop gained C/A;G snv 5.5E-06 0.700 0
dbSNP: rs869320664
rs869320664
TIMM8A
1 1.000 0.280 X 101348549 frameshift variant A/- del 0.700 0
dbSNP: rs869320665
rs869320665
TIMM8A
1 1.000 0.280 X 101348592 frameshift variant C/- delins 0.700 0
dbSNP: rs869320666
rs869320666
TIMM8A
1 1.000 0.280 X 101346683 3 prime UTR variant T/G snv 0.700 0
dbSNP: rs869320667
rs869320667
TIMM8A
1 1.000 0.280 X 101348538 frameshift variant A/- delins 0.700 0
dbSNP: rs869320733
rs869320733
TIMM8A
1 1.000 0.280 X 101346636 frameshift variant CCCAGGCTTG/- delins 0.700 0
dbSNP: rs886039794
rs886039794
LRRCC1 ; LOC105375933
8 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs886039808
rs886039808
CEP290
5 0.851 0.480 12 88083848 stop gained C/T snv 0.700 0
dbSNP: rs886039809
rs886039809
KIAA0586
11 0.807 0.480 14 58498824 frameshift variant A/- del 0.700 0
dbSNP: rs886039810
rs886039810
TMEM67
5 0.851 0.480 8 93809830 missense variant G/C snv 0.700 0
dbSNP: rs104894003
rs104894003
ACTB
7 0.827 0.320 7 5528536 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 < 0.001 1 2014 2014
dbSNP: rs2020912
rs2020912
MSH6 ; FBXO11
7 0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03 0.010 1.000 1 2012 2012