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: rs114025919
rs114025919
GHR
1 1.000 0.120 5 42688992 missense variant G/T snv 3.0E-04 1.1E-03 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: rs141842220
rs141842220
PCNA ; PCNA-AS1
1 1.000 0.120 20 5119600 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1448843898
rs1448843898
FGFR3
1 1.000 0.120 4 1805608 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
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: rs151241066
rs151241066
IARS2
1 1.000 0.120 1 220143003 missense variant G/A snv 2.0E-05 3.5E-05 0.010 1.000 1 2017 2017
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: rs33958176
rs33958176
IGF1R
1 1.000 0.120 15 98911384 missense variant G/A snv 1.6E-03 1.7E-03 0.010 1.000 1 2007 2007
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: rs577421663
rs577421663
GHR
1 1.000 0.120 5 42695051 missense variant G/A snv 2.0E-05 9.8E-05 0.010 1.000 1 1997 1997
dbSNP: rs577492
rs577492
LMNA
1 1.000 0.120 1 156130948 intron variant T/C snv 0.22 0.010 1.000 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: rs751213196
rs751213196
FGFR3
1 1.000 0.120 4 1805602 missense variant G/A;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs754740382
rs754740382
MMUT
1 1.000 0.120 6 49459175 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs780108348
rs780108348
NBAS
1 1.000 0.120 2 15402229 stop gained G/A snv 1.2E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs75790268
rs75790268
FGFR3
2 0.925 0.120 4 1804377 missense variant G/T snv 0.020 1.000 2 1999 2012
dbSNP: rs1057517917
rs1057517917
PTPN11
2 0.925 0.200 12 112450368 missense variant AT/GC mnv 0.010 < 0.001 1 2006 2006
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: rs1314542724
rs1314542724
NPR2
2 0.925 0.120 9 35805595 missense variant C/T snv 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: rs180177456
rs180177456
NLRP3
2 0.925 0.160 1 247424426 missense variant G/A snv 0.010 < 0.001 1 2019 2019
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: rs756254503
rs756254503
SPARC
2 0.925 0.120 5 151669740 missense variant G/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs761695685
rs761695685
GH1
2 0.925 0.200 17 63918865 intron variant T/C snv 0.010 1.000 1 2017 2017