Source: ALL

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: rs111033243
rs111033243
SLC26A4
0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243
SLC26A4
0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243
SLC26A4
0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs111033243
rs111033243
SLC26A4
0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.010 1.000 1 2017 2017
dbSNP: rs111033243
rs111033243
SLC26A4
0.827 0.400 7 107689112 missense variant T/C snv 6.1E-04 8.1E-04
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.010 1.000 1 2010 2010