Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.030 1.000 3 2001 2020
dbSNP: rs1441638629
rs1441638629
CSHL1 ; GH1
0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.030 1.000 3 2012 2015
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.020 1.000 2 2001 2020
dbSNP: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 < 0.001 1 2007 2007
dbSNP: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 < 0.001 1 2007 2007
dbSNP: rs137853220
rs137853220
CSHL1 ; GH1 ; LOC112268204
0.882 0.200 17 63917909 missense variant G/A snv 4.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 < 0.001 1 2007 2007
dbSNP: rs137853221
rs137853221
CSHL1 ; GH1 ; LOC112268204
0.925 0.160 17 63917803 missense variant T/C snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 1997 1997
dbSNP: rs137853222
rs137853222
CSHL1 ; GH1 ; LOC112268204
0.925 0.160 17 63918072 missense variant C/A;G snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2005 2005
dbSNP: rs137853223
rs137853223
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2020 2020
dbSNP: rs1379188099
rs1379188099
CSHL1 ; GH1 ; LOC112268204
1.000 17 63918087 missense variant G/A snv 4.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2011 2011
dbSNP: rs1441638629
rs1441638629
CSHL1 ; GH1
0.925 0.200 17 63918773 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs1487917041
rs1487917041
CSHL1 ; GH1 ; LOC112268204
1.000 17 63917839 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.010 1.000 1 2009 2009
dbSNP: rs2665802
rs2665802
CSHL1 ; GH1 ; LOC112268204
0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs2665802
rs2665802
CSHL1 ; GH1 ; LOC112268204
0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 1.000 1 2010 2010
dbSNP: rs2665802
rs2665802
CSHL1 ; GH1 ; LOC112268204
0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs2665802
rs2665802
CSHL1 ; GH1 ; LOC112268204
0.925 0.120 17 63917670 intron variant A/G;T snv 0.32
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2014 2014
dbSNP: rs371953554
rs371953554
CSHL1 ; GH1
1.000 0.080 17 63918392 missense variant C/A;T snv 4.0E-06; 3.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs373184101
rs373184101
CSHL1 ; GH1 ; LOC112268204
0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.010 1.000 1 2019 2019
dbSNP: rs373184101
rs373184101
CSHL1 ; GH1 ; LOC112268204
0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2019 2019
dbSNP: rs377600944
rs377600944
CSHL1 ; GH1 ; LOC112268204
17 63917485 missense variant G/A snv 8.8E-05 1.3E-04
CUI: C0268548
Disease: Hyperargininemia
Hyperargininemia 		0.010 1.000 1 2018 2018
dbSNP: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2007 2007
dbSNP: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.010 1.000 1 2007 2007
dbSNP: rs755905735
rs755905735
CSHL1 ; GH1 ; LOC112268204
0.851 0.160 17 63917338 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs761695685
rs761695685
GH1
0.925 0.200 17 63918865 intron variant T/C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017