rs1160978570, IGHMBP2

N. diseases: 5
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.
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0
Distal amyotrophy
CUI: C1848736
Disease: Distal amyotrophy
7 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0
Paralysis of diaphragm
CUI: C4551685
Disease: Paralysis of diaphragm
4 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0
Severe muscular hypotonia
CUI: C1839630
Disease: Severe muscular hypotonia
9 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
49 0.925 0.120 11 68933482 splice donor variant G/C;T snv 4.1E-06 0.700 0