Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1246312399
rs1246312399
1.000 0.040 2 26204107 missense variant G/A snv 4.0E-06
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism
Endocrine System Diseases 0.010 1.000 1 2014 2014