rs181011657, DYNC2H1

N. diseases: 3
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.
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 1.000 1 2017 2017
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
108 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.882 0.120 11 103257719 stop gained C/T snv 6.8E-05 1.4E-04 0.700 0