rs104894042, 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 0.120 7 155803618 missense variant A/T snv 0.800 1.000 12 1996 2009
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
45 0.925 0.120 7 155803618 missense variant A/T snv 0.700 0