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: rs121434264
rs121434264
0.851 0.080 1 193125171 missense variant T/C snv
Familial Isolated Hyperparathyroidism
Endocrine System Diseases 0.010 1.000 1 2005 2005