rs746085723, MMUT

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.
Methylmalonic acidemia
CUI: C0268583
Disease: Methylmalonic acidemia
35 6 49453583 splice donor variant A/T snv 4.0E-06; 8.0E-06 1.4E-05 0.700 1.000 1 2015 2015