rs267607149, TRPV4

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.
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
19 0.851 0.120 12 109784385 missense variant C/T snv 0.800 1.000 5 2009 2015
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
11 0.851 0.120 12 109784385 missense variant C/T snv 0.800 1.000 3 2009 2012
Neuromuscular Diseases
CUI: C0027868
Disease: Neuromuscular Diseases
50 0.851 0.120 12 109784385 missense variant C/T snv 0.700 0
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.851 0.120 12 109784385 missense variant C/T snv 0.700 0
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
5 0.851 0.120 12 109784385 missense variant C/T snv 0.700 0