Disease: Familial Testotoxicosis ×
Source: ALL
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: rs121912526
rs121912526 		0.882 0.040 2 48688604 missense variant A/G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.840 1.000 15 1993 2002
dbSNP: rs121912518
rs121912518 		0.882 0.160 2 48688064 missense variant T/C;G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.830 1.000 13 1993 2013
dbSNP: rs121912521
rs121912521 		0.925 0.200 2 48688067 missense variant G/A snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 12 1993 2006
dbSNP: rs121912540
rs121912540 		0.882 0.040 2 48688106 missense variant T/C snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 12 1993 2006
dbSNP: rs121912522
rs121912522 		0.925 0.040 2 48688082 missense variant G/A;C snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 11 1993 2001
dbSNP: rs121912533
rs121912533 		1.000 0.040 2 48688694 missense variant A/G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 11 1993 2001
dbSNP: rs121912534
rs121912534 		0.882 0.040 2 48688094 missense variant G/A;T snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.810 1.000 11 1993 2001
dbSNP: rs121912519
rs121912519 		1.000 0.040 2 48688084 missense variant C/T snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912528
rs121912528 		1.000 0.040 2 48688679 missense variant G/A snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912531
rs121912531 		1.000 0.040 2 48688173 missense variant T/G snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912532
rs121912532 		0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001
dbSNP: rs121912535
rs121912535 		0.827 0.240 2 48688427 missense variant A/C snv
CUI: C0342549
Disease: Familial Testotoxicosis
Familial Testotoxicosis 		Endocrine System Diseases 0.800 1.000 11 1993 2001