rs759549373, DYNC2H1

N. diseases: 4
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.
Disproportionate tall stature
CUI: C1836996
Disease: Disproportionate tall stature
17 0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 0.700 1.000 1 2016 2016
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
108 0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 0.700 1.000 1 2016 2016
Short ribs
CUI: C0426817
Disease: Short ribs
27 0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 0.700 1.000 1 2016 2016
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 0.700 0