rs1261505725, DYNC2H1

N. diseases: 2
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.
Majewski Syndrome
CUI: C0024507
Disease: Majewski Syndrome
31 0.925 0.080 11 103245376 splice donor variant T/G snv 5.0E-06 2.1E-05 0.700 0
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
108 0.925 0.080 11 103245376 splice donor variant T/G snv 5.0E-06 2.1E-05 0.700 0