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: rs121908327
rs121908327
TMC6
1 17 78125876 stop gained G/A snv 2.6E-05 7.0E-06 0.700 0
dbSNP: rs121908328
rs121908328
TMC6
1 17 78119382 stop gained C/A;T snv 6.8E-05 0.700 0
dbSNP: rs121908329
rs121908329
TMC6
1 17 78124671 stop gained G/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs769471844
rs769471844
TMC6
2 1.000 0.080 17 78124181 splice acceptor variant T/A snv 4.0E-06 0.700 0