rs137854438, FAM83H

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.
Amelogenesis Imperfecta, Type III
CUI: C0399376
Disease: Amelogenesis Imperfecta, Type III
13 1.000 0.080 8 143728570 stop gained A/T snv 0.700 0
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 1.000 0.080 8 143728570 stop gained A/T snv 0.010 1.000 1 2019 2019