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: rs121918010
rs121918010
ALPL
5 0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs145730800
rs145730800
ANKRD11
1 1.000 0.120 16 89283963 missense variant G/A snv 5.2E-05 1.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs122460151
rs122460151
ARSL
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs1481733213
rs1481733213
ATR
5 0.851 0.240 3 142568059 splice region variant T/C snv 0.700 0
dbSNP: rs1553761113
rs1553761113
ATR
5 0.851 0.240 3 142507967 missense variant C/A snv 0.700 0
dbSNP: rs557914261
rs557914261
BLVRB
3 0.925 0.160 19 40458393 missense variant G/A snv 2.8E-05 0.010 < 0.001 1 2007 2007
dbSNP: rs3782886
rs3782886
BRAP
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.020 1.000 2 2017 2019
dbSNP: rs587779349
rs587779349
BRCA2
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs387906918
rs387906918
CDT1
2 0.925 0.120 16 88804027 missense variant G/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs111033552
rs111033552
COL10A1 ; NT5DC1
2 0.925 0.120 6 116120105 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs121912889
rs121912889
COL2A1
4 0.851 0.160 12 47974234 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs587779348
rs587779348
CRIPT
3 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0
dbSNP: rs587779356
rs587779356
CRIPT
3 0.882 0.160 2 46619676 frameshift variant -/GG delins 0.700 0
dbSNP: rs201151136
rs201151136
CSGALNACT1
1 1.000 0.120 8 19458486 missense variant T/C snv 1.4E-04 1.2E-04 0.010 1.000 1 2020 2020
dbSNP: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
4 0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs137853221
rs137853221
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63917803 missense variant T/C snv 0.010 1.000 1 1997 1997
dbSNP: rs137853222
rs137853222
CSHL1 ; GH1 ; LOC112268204
2 0.925 0.160 17 63918072 missense variant C/A;G snv 0.010 1.000 1 2005 2005
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
4 0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs587777614
rs587777614
DNA2
3 0.882 0.160 10 68416703 frameshift variant G/- delins 0.700 0
dbSNP: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs387906623
rs387906623
FBN1
4 0.882 0.120 15 48460258 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1566902569
rs1566902569
FBN1
9 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
dbSNP: rs28931614
rs28931614
FGFR3
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.060 1.000 6 1999 2016
dbSNP: rs121913479
rs121913479
FGFR3
10 0.763 0.280 4 1804362 missense variant G/A;T snv 4.0E-06 0.020 1.000 2 1999 2002