rs876661124, TRPV4

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.
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
CUI: C1838492
Disease: SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)
6 0.882 0.160 12 109814507 missense variant G/C snv 0.700 1.000 3 2010 2012
Distal Spinal Muscular Atrophy
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
8 0.882 0.160 12 109814507 missense variant G/C snv 0.010 1.000 1 2012 2012
Vocal Cord Paralysis
CUI: C0042928
Disease: Vocal Cord Paralysis
3 0.882 0.160 12 109814507 missense variant G/C snv 0.010 1.000 1 2012 2012