Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75076352
rs75076352
RET
0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.040 1.000 4 1994 1998
dbSNP: rs104893717
rs104893717
CASR
0.925 0.040 3 122254227 missense variant T/C snv
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.010 1.000 1 2005 2005
dbSNP: rs200673016
rs200673016
CASR
0.925 0.040 3 122254221 missense variant T/C snv 4.2E-05
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.010 1.000 1 2005 2005
dbSNP: rs75996173
rs75996173
RET
0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0030517
Disease: Parathyroid Diseases
Parathyroid Diseases 		0.010 1.000 1 1998 1998