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: rs142498437
rs142498437
SLC26A4
1.000 0.160 7 107690212 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.700 1.000 6 2011 2015