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: rs1010184002
rs1010184002
PEX6
60 0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 0.700 0
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: rs1566902569
rs1566902569
FBN1
9 0.882 0.160 15 48460299 missense variant C/A snv 0.700 0
dbSNP: rs397514487
rs397514487
POC1A
3 0.882 0.200 3 52149850 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs587777614
rs587777614
DNA2
3 0.882 0.160 10 68416703 frameshift variant G/- delins 0.700 0
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: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 < 0.001 1 2006 2006
dbSNP: rs1179060441
rs1179060441
GHR
1 1.000 0.120 5 42694934 missense variant C/T snv 8.1E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs1218653273
rs1218653273
STAT5A
3 0.925 0.160 17 42292005 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs121909173
rs121909173
HESX1
5 0.851 0.240 3 57199901 missense variant C/G snv 2.8E-05 1.4E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1314542724
rs1314542724
NPR2
2 0.925 0.120 9 35805595 missense variant C/T snv 0.010 < 0.001 1 2007 2007
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: rs180177456
rs180177456
NLRP3
2 0.925 0.160 1 247424426 missense variant G/A snv 0.010 < 0.001 1 2019 2019
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: rs75028043
rs75028043
GHR
1 1.000 0.120 5 42688959 missense variant C/T snv 2.1E-04 2.1E-05 0.010 < 0.001 1 2002 2002
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.020 0.500 2 1998 1998
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: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 2 2001 2014
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
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: rs75790268
rs75790268
FGFR3
2 0.925 0.120 4 1804377 missense variant G/T snv 0.020 1.000 2 1999 2012