rs1560127636, IFT57

N. diseases: 1
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.
OROFACIODIGITAL SYNDROME XVIII
CUI: C4693651
Disease: OROFACIODIGITAL SYNDROME XVIII
1 1.000 3 108213928 splice region variant T/C snv 0.700 0