rs372181708, IGHMBP2

N. diseases: 3
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.
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
8 0.882 0.120 11 68933399 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 1.000 1 2014 2014
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
32 0.882 0.120 11 68933399 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
49 0.882 0.120 11 68933399 stop gained C/G;T snv 4.0E-06; 1.2E-05 0.700 0