rs863223290, ROR2

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.
BRACHYDACTYLY, TYPE B1
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
8 0.925 0.080 9 91726602 frameshift variant GCCGC/- delins 0.700 0
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
CUI: C3151609
Disease: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH APLASIA/HYPOPLASIA OF PHALANGES AND METACARPALS/METATARSALS
1 0.925 0.080 9 91726602 frameshift variant GCCGC/- delins 0.700 0