rs121912636, 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.
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
19 0.925 0.120 12 109798775 missense variant T/A;C snv 4.0E-06 0.800 1.000 5 2009 2015
Skeletal dysplasia
CUI: C0410528
Disease: Skeletal dysplasia
65 0.925 0.120 12 109798775 missense variant T/A;C snv 4.0E-06 0.700 0