rs1057518660, SHH

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.
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
37 1.000 0.120 7 155803005 frameshift variant G/- delins 0.700 0