rs143814221, GHR

N. diseases: 8
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Disproportionate short-limb short stature
CUI: C1849937
Disease: Disproportionate short-limb short stature
5 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Genu varum
CUI: C0544755
Disease: Genu varum
6 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Laron Syndrome
CUI: C0271568
Disease: Laron Syndrome
21 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Mesomelic/rhizomelic limb shortening
CUI: C1866239
Disease: Mesomelic/rhizomelic limb shortening
1 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.882 0.160 5 42711306 missense variant T/C snv 2.7E-04 2.3E-04 0.700 0