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: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C3887873
Disease: Hearing Loss
Hearing Loss 		0.700 0
dbSNP: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.020 1.000 2 2013 2017
dbSNP: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C3538946
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 		0.800 1.000 13 1998 2017
dbSNP: rs121908362
rs121908362
SLC26A4
0.882 0.280 7 107710132 missense variant A/G snv 1.2E-04 3.5E-05
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.820 1.000 23 1997 2014