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: 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: 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: rs386833760
rs386833760
CC2D2A
11 0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04 0.700 0
dbSNP: rs387906905
rs387906905
TRPV4
10 0.882 0.120 12 109798819 missense variant C/T snv 0.700 0
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: rs61752129
rs61752129
PEX26
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs730882191
rs730882191
PITX1
1 1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins 0.700 0
dbSNP: rs730882245
rs730882245
KIAA1109
6 0.827 0.160 4 122207168 stop gained T/A snv 0.700 0
dbSNP: rs750195040
rs750195040
POMT1
12 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 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: 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: rs771237928
rs771237928
NOTCH2
14 0.752 0.280 1 119915813 frameshift variant G/-;GG delins 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: rs778360818
rs778360818
PLOD2
9 0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs780770356
rs780770356
PLOD2 ; LNCSRLR
9 0.851 0.120 3 146071125 stop gained G/A snv 0.700 0
dbSNP: rs7969148
rs7969148
RFLNA ; ZNF664-RFLNA
1 1.000 0.080 12 124129992 intron variant T/C snv 0.23 0.710 1.000 1 2014 2014
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0