rs1057518898, 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.
Bowing of the long bones
CUI: C1855340
Disease: Bowing of the long bones
5 11 103256241 splice donor variant G/A;C snv 4.4E-06 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 11 103256241 splice donor variant G/A;C snv 4.4E-06 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 11 103256241 splice donor variant G/A;C snv 4.4E-06 0.700 0