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: 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: 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
dbSNP: rs104893915
rs104893915
SLC26A2
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.020 1.000 2 2001 2003
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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs121908620
rs121908620
CHST3
2 0.925 0.080 10 72007888 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs121909109
rs121909109
PITX1 ; C5orf66
1 1.000 0.080 5 135031290 missense variant C/T snv 0.810 1.000 3 2008 2012
dbSNP: rs267607144
rs267607144
TRPV4
17 0.716 0.360 12 109800665 missense variant C/T snv 0.700 1.000 4 2010 2014
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: 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: 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: 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: rs1135401744
rs1135401744
KYNU
14 0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 0.700 1.000 1 2017 2017
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
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