Source: CLINVAR ×
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: rs121908072
rs121908072
TMC1
1 1.000 0.120 9 72816161 missense variant G/A;C snv 0.810 1.000 3 2002 2014
dbSNP: rs775428246
rs775428246
TMC1
3 0.925 0.120 9 72694715 splice donor variant G/A;T snv 1.7E-05; 4.2E-06 0.700 0
dbSNP: rs786201027
rs786201027
TMC1
1 1.000 0.120 9 72791914 missense variant T/A snv 0.700 0