rs121912634, TRPV4

N. diseases: 2
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.
Spondylometaphyseal dysplasia, Kozlowski type
CUI: C0265280
Disease: Spondylometaphyseal dysplasia, Kozlowski type
11 0.925 0.080 12 109798768 missense variant T/C snv 0.800 1.000 3 2009 2012
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 12 109798768 missense variant T/C snv 0.700 0