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: rs1451011538
rs1451011538
0.925 0.080 16 84838647 missense variant T/A snv 4.0E-06
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs775437927
rs775437927
0.882 0.080 16 84849390 missense variant G/A snv 6.0E-05 7.0E-06
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs777418530
rs777418530
0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
Endocrine System Diseases 0.010 1.000 1 2008 2008