rs104894053, 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 3
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
37 0.925 0.160 7 155806475 stop gained C/T snv 0.700 0
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
3 0.925 0.160 7 155806475 stop gained C/T snv 0.700 0