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: rs111033199
rs111033199
0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.810 1.000 34 1997 2017
dbSNP: rs111033199
rs111033199
0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.700 0
dbSNP: rs111033199
rs111033199
0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.010 1.000 1 2011 2011