Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1557196978
rs1557196978
ATP6AP1
8 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1245618829
rs1245618829
IKZF1
2 0.925 7 50327661 missense variant G/A;C snv 8.1E-06 0.700 0
dbSNP: rs1566528711
rs1566528711
GJB2
6 0.851 0.240 13 20189338 missense variant T/C snv 0.700 0