rs1565868973, TRPV4

N. diseases: 6
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.
Enlarged metaphyses
CUI: C1855544
Disease: Enlarged metaphyses
1 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0
Femoral bowing
CUI: C1859461
Disease: Femoral bowing
13 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0
Metatropic dwarfism
CUI: C0265281
Disease: Metatropic dwarfism
19 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
18 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0
Platyspondyly
CUI: C1844704
Disease: Platyspondyly
3 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0
Short leg
CUI: C0426901
Disease: Short leg
1 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0