rs368775789, IGHMBP2

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.
Respiratory Failure
CUI: C1145670
Disease: Respiratory Failure
23 0.925 0.120 11 68935403 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2016 2016
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
49 0.925 0.120 11 68935403 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2018 2018