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: rs28939086
rs28939086
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 21 1997 2013
dbSNP: rs28939086
rs28939086
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800 1.000 24 1998 2019
dbSNP: rs28939086
rs28939086
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 1.000 1 2018 2018
dbSNP: rs28939086
rs28939086
0.925 0.160 7 107690220 missense variant A/C;G snv 2.0E-04; 4.0E-06
CUI: C0018021
Disease: Goiter
Goiter
0.010 1.000 1 2004 2004