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: 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: 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: 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
dbSNP: rs761695685
rs761695685
GH1
0.925 0.200 17 63918865 intron variant T/C snv
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 1.000 1 2017 2017