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: rs945006
rs945006
DIO3
1 1.000 0.040 14 101562940 3 prime UTR variant T/G snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs2287047
rs2287047
IL1R1
1 1.000 0.040 2 102157594 intron variant G/A snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs778767225
rs778767225
MOK
4 0.851 0.200 14 102231805 missense variant C/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1254566330
rs1254566330
MOK
2 0.925 0.120 14 102250845 stop gained C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs1940475
rs1940475
MMP8
4 1.000 0.040 11 102722517 missense variant T/C;G snv 0.54 0.010 < 0.001 1 2016 2016
dbSNP: rs513964
rs513964
MMP1 ; WTAPP1
1 1.000 0.040 11 102795478 missense variant T/C snv 1.9E-04 7.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.020 0.500 2 2018 2019
dbSNP: rs639752
rs639752
MMP3 ; WTAPP1
3 0.882 0.120 11 102836608 non coding transcript exon variant C/A snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs650108
rs650108
MMP3
6 0.827 0.160 11 102838056 intron variant G/A snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs520540
rs520540
MMP3
2 0.925 0.120 11 102838694 synonymous variant A/G snv 0.57 0.54 0.010 1.000 1 2017 2017
dbSNP: rs602128
rs602128
MMP3
1 1.000 0.040 11 102842734 missense variant A/C;G snv 4.0E-06; 0.57 0.010 1.000 1 2017 2017
dbSNP: rs679620
rs679620
MMP3
17 0.716 0.360 11 102842889 missense variant T/C snv 0.58 0.57 0.010 1.000 1 2017 2017
dbSNP: rs1676486
rs1676486
COL11A1
7 0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2615977
rs2615977
COL11A1
3 0.925 0.080 1 102986836 intron variant A/C snv 0.27 0.010 < 0.001 1 2013 2013
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 0.010 1.000 1 2018 2018
dbSNP: rs835487
rs835487
CHST11
2 0.925 0.040 12 104666989 intron variant A/G snv 0.43 0.010 1.000 1 2017 2017
dbSNP: rs1560707
rs1560707
SLC44A2
1 1.000 0.040 19 10640062 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs3815148
rs3815148
COG5
1 1.000 0.040 7 107297975 intron variant A/C snv 0.20 0.810 1.000 1 2010 2010
dbSNP: rs4730250
rs4730250
DUS4L
1 1.000 0.040 7 107567250 intron variant A/G snv 0.12 0.810 1.000 1 2011 2011
dbSNP: rs2966417
rs2966417
LOC105375451
1 1.000 0.040 7 110517489 intron variant A/G snv 0.69 0.700 1.000 1 2012 2012
dbSNP: rs10980705
rs10980705
LPAR1
1 1.000 0.040 9 111040905 upstream gene variant C/T snv 0.18 0.020 0.500 2 2008 2009
dbSNP: rs1034528
rs1034528
MTOR ; ANGPTL7
5 0.882 0.120 1 11189075 intron variant G/C snv 0.30 0.010 1.000 1 2019 2019