rs587779348, CRIPT

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.
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
CUI: C4014339
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
3 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0
PITUITARY DWARFISM I
CUI: C0342573
Disease: PITUITARY DWARFISM I
9 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.882 0.160 2 46623765 frameshift variant T/- delins 0.700 0