rs878854405, MAGED2

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.
BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
CUI: C4310820
Disease: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
5 1.000 X 54812155 splice acceptor variant A/G snv 0.700 0