rs267607150, 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 109792671 missense variant T/C snv 0.700 0
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
CUI: C3159322
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
5 0.925 0.080 12 109792671 missense variant T/C snv 0.700 0