rs1057518943, 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.
Difficulty walking
CUI: C0311394
Disease: Difficulty walking
30 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
Progressive muscle weakness
CUI: C0240421
Disease: Progressive muscle weakness
15 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
49 1.000 0.120 11 68906163 missense variant G/A;C snv 8.0E-06 0.700 0