rs397514461, SHOX

N. diseases: 5
Source: ALL
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.
Langer Mesomelic Dysplasia Syndrome
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
4 0.827 0.200 Y 640842 missense variant G/C snv 0.710 1.000 1 2011 2011
Leri-Weill dyschondrosteosis
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
9 0.827 0.200 Y 640842 missense variant G/C snv 0.710 1.000 1 2011 2011
Madelung Deformity
CUI: C0152441
Disease: Madelung Deformity
2 0.827 0.200 Y 640842 missense variant G/C snv 0.020 1.000 2 2011 2012
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.827 0.200 Y 640842 missense variant G/C snv 0.010 1.000 1 2012 2012
Mesomelia
CUI: C0549306
Disease: Mesomelia
4 0.827 0.200 Y 640842 missense variant G/C snv 0.010 1.000 1 2011 2011