rs201424543, ARSL

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.
Brachytelephalangic Chondrodysplasia Punctata
CUI: C1844853
Disease: Brachytelephalangic Chondrodysplasia Punctata
11 1.000 X 2938195 missense variant C/G;T snv 5.4E-04 0.700 0