rs121912632, 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.
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.882 0.080 12 109792407 missense variant C/T snv 0.700 0
Brachyolmia
CUI: C0432228
Disease: Brachyolmia
3 0.882 0.080 12 109792407 missense variant C/T snv 0.010 1.000 1 2019 2019
Brachyolmia Type 3
CUI: C0432227
Disease: Brachyolmia Type 3
3 0.882 0.080 12 109792407 missense variant C/T snv 0.810 1.000 2 2008 2014