rs751430853, AP1S1

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.
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
CUI: C1836330
Disease: ERYTHROKERATODERMIA VARIABILIS 3 (disorder)
1 1.000 0.080 7 101157375 splice acceptor variant A/G snv 2.2E-05 7.0E-06 0.700 0