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: rs2269336
rs2269336
COL1A1
1 1.000 0.040 17 50202995 intron variant G/A;C snv 0.030 0.667 3 2007 2011
dbSNP: rs1516794
rs1516794
ACAN
1 1.000 0.040 15 88861672 intron variant A/T snv 5.3E-03 0.020 1.000 2 2011 2014
dbSNP: rs3784757
rs3784757
ACAN
1 1.000 0.040 15 88860173 intron variant G/A snv 0.13 0.020 1.000 2 2011 2014
dbSNP: rs1003483
rs1003483
IGF2 ; IGF2-AS ; INS-IGF2
1 1.000 0.040 11 2146313 non coding transcript exon variant T/G snv 0.47 0.40 0.010 1.000 1 2015 2015
dbSNP: rs10215153
rs10215153
MET
1 1.000 0.040 7 116759077 intron variant G/A snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs116126526
rs116126526
OPTC ; LOC105371688
1 1.000 0.040 1 203503710 missense variant G/A snv 1.2E-03 2.6E-03 0.010 1.000 1 2007 2007
dbSNP: rs11746675
rs11746675
GRM6
1 1.000 0.040 5 178986946 synonymous variant T/C snv 0.60 0.57 0.010 1.000 1 2016 2016
dbSNP: rs12421026
rs12421026
PAX6 ; ELP4
1 1.000 0.040 11 31787774 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs146113475
rs146113475
TNFRSF21
1 1.000 0.040 6 47286087 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs1886970
rs1886970
MIPEP
1 1.000 0.040 13 23866359 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs2067011
rs2067011
GRM6
1 1.000 0.040 5 178988936 splice region variant A/G snv 0.53 0.51 0.010 1.000 1 2016 2016
dbSNP: rs2229336
rs2229336
TGIF1
1 1.000 0.040 18 3457778 synonymous variant T/G snv 1.9E-02 5.5E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs2229429
rs2229429
INSR
1 1.000 0.040 19 7166377 missense variant G/A;C;T snv 0.20; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2236475
rs2236475
SLC19A1 ; COL18A1
1 1.000 0.040 21 45495128 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs2645339
rs2645339
GRM6
1 1.000 0.040 5 178989062 synonymous variant G/A snv 0.53 0.50 0.010 1.000 1 2016 2016
dbSNP: rs28730814
rs28730814
MMP2
1 1.000 0.040 16 55496952 missense variant G/A;C;T snv 1.3E-03; 1.1E-04; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs3026390
rs3026390
PAX6
1 1.000 0.040 11 31791961 non coding transcript exon variant T/A;C snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs35766
rs35766
LOC105369944
1 1.000 0.040 12 102486695 upstream gene variant C/T snv 0.71 0.010 1.000 1 2017 2017
dbSNP: rs368943069
rs368943069
ANXA5
1 1.000 0.040 4 121678449 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs3745551
rs3745551
INSR
1 1.000 0.040 19 7114277 3 prime UTR variant C/T snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs3759222
rs3759222
LUM
1 1.000 0.040 12 91113176 upstream gene variant T/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs3803036
rs3803036
PTPRR
1 1.000 0.040 12 70745884 missense variant T/A;C snv 0.77 0.010 1.000 1 2013 2013
dbSNP: rs3819142
rs3819142
UMODL1
1 1.000 0.040 21 42137588 missense variant A/C snv 0.21 0.18 0.010 < 0.001 1 2012 2012
dbSNP: rs38857
rs38857
MET
1 1.000 0.040 7 116725359 intron variant T/C snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs4764971
rs4764971
ACTR6 ; DEPDC4
1 1.000 0.040 12 100238019 3 prime UTR variant A/G snv 0.15 0.010 1.000 1 2013 2013