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: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 9 2005 2009
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs1555970404
rs1555970404
3 0.882 0.200 X 85255275 frameshift variant -/A delins 0.700 1.000 2 2009 2017
dbSNP: rs1425998598
rs1425998598
19 0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs1208636573
rs1208636573
15 0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1554642022
rs1554642022
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1555575860
rs1555575860
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1560264452
rs1560264452
5 0.851 0.200 3 181712745 frameshift variant GG/- del 0.700 0
dbSNP: rs200635937
rs200635937
3 0.925 0.040 1 168104855 missense variant A/T snv 2.9E-03 8.0E-04 0.700 0
dbSNP: rs622288
rs622288
15 0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05 0.700 0
dbSNP: rs770374710
rs770374710
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs886041116
rs886041116
13 0.776 0.240 20 50892526 stop gained G/A snv 0.700 0
dbSNP: rs121918117
rs121918117
4 0.851 0.160 7 30969116 stop gained G/A;T snv 1.8E-04 0.020 1.000 2 2005 2013
dbSNP: rs137853223
rs137853223
4 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.020 1.000 2 2001 2020
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: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs137904970
rs137904970
2 0.925 0.120 9 136200607 missense variant C/T snv 3.2E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1379188099
rs1379188099
1 1.000 17 63918087 missense variant G/A snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs368166434
rs368166434
4 0.851 0.200 8 115603883 stop gained G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs372703574
rs372703574
4 0.851 0.160 20 38146858 missense variant G/A snv 4.8E-05 6.3E-05 0.010 1.000 1 2007 2007
dbSNP: rs373184101
rs373184101
2 0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs60310264
rs60310264
5 0.827 0.200 1 156130693 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs6180
rs6180
GHR
6 0.827 0.160 5 42719137 missense variant A/C snv 0.44 0.43 0.010 1.000 1 2007 2007
dbSNP: rs745805222
rs745805222
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs749318884
rs749318884
2 0.925 0.120 1 180248431 missense variant G/A snv 8.4E-05 3.5E-05 0.010 1.000 1 2012 2012