rs146990376, 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
CUI: C0079541
Disease: Holoprosencephaly
45 1.000 0.120 7 155806384 stop gained G/A;C snv 1.2E-05 0.700 0