rs116571438, 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.
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06 0.700 0
Spondylometaphyseal dysplasia, Kozlowski type
11 0.925 0.080 12 109788483 missense variant G/A;T snv 8.0E-06 0.700 0