rs587778799, SHH

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.
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
45 0.925 0.120 7 155806296 missense variant C/G snv 0.710 1.000 1 2005 2005
HOLOPROSENCEPHALY 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
37 0.925 0.120 7 155806296 missense variant C/G snv 0.700 1.000 12 1996 2009