rs121909192, SMN2

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.
Juvenile Spinal Muscular Atrophy
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
17 0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03 0.700 1.000 1 2009 2009
SPINAL MUSCULAR ATROPHY, MODIFIER OF
CUI: C4016747
Disease: SPINAL MUSCULAR ATROPHY, MODIFIER OF
1 0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03 0.700 0
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.925 0.080 5 70076545 missense variant G/C snv 3.3E-03 2.2E-03 0.030 1.000 3 2009 2010