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: rs9301951
rs9301951
GPC6
1 1.000 0.040 13 94300578 intron variant T/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1245582
rs1245582 		1 1.000 0.040 10 72018509 downstream gene variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs422342
rs422342
LOC102723493
1 1.000 0.040 15 67055348 intron variant A/G snv 0.13 0.010 1.000 1 2017 2017
dbSNP: rs2073711
rs2073711
CILP
7 0.807 0.160 15 65201874 missense variant A/G snv 0.56 0.61 0.020 1.000 2 2011 2016
dbSNP: rs2292657
rs2292657
GLI1
1 1.000 0.040 12 57466149 intron variant G/A snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs11076008
rs11076008
FTO
2 0.925 0.120 16 53893411 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs201621853
rs201621853
IGFBP6
2 0.925 0.040 12 53100807 missense variant T/C snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1800012
rs1800012
COL1A1
13 0.763 0.320 17 50200388 intron variant C/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1793953
rs1793953
COL2A1
2 0.925 0.080 12 47999743 non coding transcript exon variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2276454
rs2276454
COL2A1 ; LOC105369752
2 0.925 0.040 12 47982508 synonymous variant G/A snv 0.39 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1793937
rs1793937
COL2A1 ; LOC105369752
1 1.000 0.040 12 47981692 intron variant C/G snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2017 2019
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2017 2018
dbSNP: rs4875102
rs4875102
CSMD1
1 1.000 0.040 8 4427170 intron variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs17034687
rs17034687 		1 1.000 0.040 3 3638168 intergenic variant C/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.010 1.000 1 2018 2018
dbSNP: rs3749982
rs3749982
LOC100294145
1 1.000 0.040 6 32894830 upstream gene variant T/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs9469300
rs9469300
LOC100294145
1 1.000 0.040 6 32892975 upstream gene variant G/A snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs11969002
rs11969002 		1 1.000 0.040 6 32891971 upstream gene variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs7744666
rs7744666 		1 1.000 0.040 6 32891935 upstream gene variant T/C snv 0.13 0.800 1.000 1 2013 2013
dbSNP: rs10214886
rs10214886 		1 1.000 0.040 6 32889642 intergenic variant T/A snv 0.14 0.800 1.000 1 2013 2013