rs1553546045, PTH2R

N. diseases: 5
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.
Abnormality of pain sensation
CUI: C4023691
Disease: Abnormality of pain sensation
3 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
48 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0
Premature Menopause
CUI: C0025322
Disease: Premature Menopause
90 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0