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: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs759244819
rs759244819
ALG12
3 0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05 0.700 0
dbSNP: rs761221480
rs761221480
ALG12
3 0.882 0.120 22 49913649 frameshift variant C/- del 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
15 0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins 0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
7 0.882 0.200 4 15516757 splice donor variant G/A snv 0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs121908620
rs121908620
CHST3
2 0.925 0.080 10 72007888 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1057518871
rs1057518871
COL5A1
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs1135056
rs1135056
COL9A1
1 1.000 0.080 6 70252130 missense variant T/C snv 0.37 0.38 0.010 < 0.001 1 2016 2016
dbSNP: rs35470562
rs35470562
COL9A1
1 1.000 0.080 6 70240718 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs592121
rs592121
COL9A1
1 1.000 0.080 6 70274733 missense variant A/G;T snv 0.40 0.010 < 0.001 1 2016 2016
dbSNP: rs766335907
rs766335907
COMP
4 0.851 0.200 19 18787632 missense variant G/A;T snv 8.0E-06; 8.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs142433332
rs142433332
DARS2
14 0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06 0.700 0
dbSNP: rs1553201258
rs1553201258
DARS2
14 0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins 0.700 0
dbSNP: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs113871094
rs113871094
FBN1
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs1470699812
rs1470699812
FLNB
5 0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06 0.700 0
dbSNP: rs771785420
rs771785420
GAN
8 0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs3801776
rs3801776
HOXA9 ; HOXA10-HOXA9
1 1.000 0.080 7 27165663 intron variant A/G snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs189468720
rs189468720
HOXC12 ; LOC105369775
2 0.925 0.080 12 53955457 missense variant C/G snv 3.6E-03 3.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs121918130
rs121918130
INPP5E
18 0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06 0.700 0
dbSNP: rs1554846212
rs1554846212
KAT6B ; DUPD1
9 0.851 0.160 10 75030037 missense variant C/T snv 0.700 0