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: rs111033244
rs111033244
1.000 0.160 7 107690125 missense variant A/G snv 1.1E-04 1.5E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.800 1.000 20 1997 2009