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: rs587779356
rs587779356
CRIPT
3 0.882 0.160 2 46619676 frameshift variant -/GG delins 0.700 0
dbSNP: rs121918456
rs121918456
PTPN11
13 0.752 0.280 12 112473023 missense variant A/C;G snv 0.010 1.000 1 2009 2009
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: rs121913485
rs121913485
FGFR3
18 0.716 0.400 4 1804372 missense variant A/G snv 0.010 1.000 1 2002 2002
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: rs267607048
rs267607048
SHOC2
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs540473875
rs540473875
GHR
1 1.000 0.120 5 42718502 missense variant A/G snv 4.1E-04 4.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs80053154
rs80053154
FGFR3
2 0.925 0.120 4 1805636 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs759838407
rs759838407
LIG4
3 0.925 0.160 13 108209756 frameshift variant AG/-;AGAG delins 0.700 1.000 1 2014 2014
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 < 0.001 1 2006 2006
dbSNP: rs587779349
rs587779349
BRCA2
8 0.776 0.280 13 32380040 frameshift variant C/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1211533350
rs1211533350
FGFR3
5 0.827 0.120 4 1805638 synonymous variant C/A snv 4.0E-06 7.0E-06 0.010 1.000 1 1998 1998
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: 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: 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: rs104894228
rs104894228
HRAS ; LRRC56
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs587781858
rs587781858
TP53
12 0.742 0.360 17 7669671 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
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: 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: rs137853092
rs137853092
WNK4
5 0.851 0.240 17 42787494 missense variant C/G snv 0.010 1.000 1 2011 2011
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: rs121909362
rs121909362
GHR
5 0.827 0.160 5 42699919 missense variant C/T snv 3.9E-03 4.1E-03 0.010 1.000 1 2007 2007
dbSNP: rs1314542724
rs1314542724
NPR2
2 0.925 0.120 9 35805595 missense variant C/T snv 0.010 < 0.001 1 2007 2007