rs750295789, PTH

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.
Congenital hypoparathyroidism
CUI: C1455734
Disease: Congenital hypoparathyroidism
1 0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06 0.010 1.000 1 2018 2018
Hypocalcemia
CUI: C0020598
Disease: Hypocalcemia
13 0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06 0.010 1.000 1 2018 2018
Hypoparathyroidism
CUI: C0020626
Disease: Hypoparathyroidism
15 0.925 0.040 11 13492788 stop gained G/T snv 4.0E-06 0.010 1.000 1 2018 2018