rs104894040, SHH

N. diseases: 4
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 0.882 0.160 7 155806509 missense variant A/C;G snv 0.800 1.000 12 1996 2009
Holoprosencephaly
CUI: C0079541
Disease: Holoprosencephaly
45 0.882 0.160 7 155806509 missense variant A/C;G snv 0.700 0
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.882 0.160 7 155806509 missense variant A/C;G snv 0.010 1.000 1 2016 2016
Experimental Organism Basal Cell Carcinoma
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
63 0.882 0.160 7 155806509 missense variant A/C;G snv 0.010 1.000 1 2016 2016