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: rs1241164
rs1241164
COL11A1
1 1.000 0.040 1 102890921 intron variant C/T snv 0.14 0.020 1.000 2 2014 2017
dbSNP: rs3753841
rs3753841
COL11A1
7 0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49 0.010 1.000 1 2018 2018
dbSNP: rs2126643
rs2126643
COL11A1
1 1.000 0.040 1 102938828 intron variant T/C snv 0.62 0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
3 0.882 0.040 1 103000497 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs4907986
rs4907986
COL11A1
2 0.925 0.040 1 103084077 intron variant C/T snv 0.49 0.020 1.000 2 2014 2017
dbSNP: rs4338381
rs4338381
COL11A1
2 1.000 0.040 1 103107371 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs835487
rs835487
CHST11
2 0.925 0.040 12 104666989 intron variant A/G snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs835488
rs835488
CHST11
1 1.000 0.040 12 104667230 intron variant C/T snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs5009270
rs5009270 		1 1.000 0.040 7 112519123 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 < 0.001 1 2011 2011
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2011 2011
dbSNP: rs419598
rs419598
IL1RN
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2011 2011
dbSNP: rs9005
rs9005
IL1RN
4 0.851 0.160 2 113133835 3 prime UTR variant G/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs4979341
rs4979341 		2 0.925 0.040 9 114143263 intergenic variant C/T snv 0.22 0.700 1.000 1 2019 2019
dbSNP: rs1330349
rs1330349
TNC ; DELEC1
1 1.000 0.040 9 115078463 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs2480930
rs2480930
TNC ; DELEC1
1 1.000 0.040 9 115080028 intron variant A/G snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs568725
rs568725
NT5DC1
1 1.000 0.040 6 116109640 intron variant G/A snv 0.60 0.010 1.000 1 2011 2011
dbSNP: rs4836732
rs4836732
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116504416 intron variant C/T snv 0.49 0.700 1.000 2 2018 2019
dbSNP: rs13283416
rs13283416
ASTN2 ; ASTN2-AS1
2 1.000 0.040 9 116539328 intron variant T/G snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs34687269
rs34687269
ASTN2
1 1.000 0.040 9 116721853 intron variant A/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs2707466
rs2707466
WNT16
2 1.000 0.040 7 121339035 missense variant C/G;T snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs11059094
rs11059094
MLXIP
1 1.000 0.040 12 122122290 intron variant C/T snv 0.51 0.700 1.000 1 2019 2019
dbSNP: rs4765540
rs4765540
RFLNA ; ZNF664-RFLNA
1 1.000 0.040 12 124315096 3 prime UTR variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs62578127
rs62578127
LMX1B
1 1.000 0.040 9 126624581 intron variant C/G;T snv 0.700 1.000 1 2019 2019