rs1555548680, STAT5B

N. diseases: 5
Source: CLINVAR ×
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.
Decreased serum insulin-like growth factor 1
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
3 1.000 0.120 17 42216066 missense variant T/C snv 0.700 0
Increased IgE level
CUI: C0236175
Disease: Increased IgE level
6 1.000 0.120 17 42216066 missense variant T/C snv 0.700 0
Laron syndrome type 2
CUI: C1855548
Disease: Laron syndrome type 2
6 1.000 0.120 17 42216066 missense variant T/C snv 0.700 0
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 1.000 0.120 17 42216066 missense variant T/C snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 1.000 0.120 17 42216066 missense variant T/C snv 0.700 0