rs1566445029, 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.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
32 0.925 0.120 11 68935297 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
49 0.925 0.120 11 68935297 splice acceptor variant A/G snv 0.700 1.000 3 2003 2015