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: rs121908074
rs121908074
TMC1
1 1.000 0.120 9 72821038 missense variant A/G snv 2.1E-05 0.800 1.000 1 2002 2002
dbSNP: rs370898981
rs370898981
TMC1
1 1.000 0.120 9 72816213 splice region variant A/G snv 6.1E-04 5.5E-04 0.700 1.000 2 2011 2013
dbSNP: rs121908073
rs121908073
TMC1
3 0.925 0.120 9 72694578 stop gained C/T snv 5.6E-05 0.700 0
dbSNP: rs121908076
rs121908076
TMC1
1 1.000 0.120 9 72792329 missense variant T/C snv 0.700 0
dbSNP: rs138527651
rs138527651
TMC1
1 1.000 0.120 9 72821017 missense variant T/C snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs1564554148
rs1564554148
TMC1
1 1.000 0.120 9 72788337 splice acceptor variant A/C snv 0.700 0
dbSNP: rs1564555185
rs1564555185
TMC1
2 1.000 0.120 9 72789306 frameshift variant -/A delins 0.700 0
dbSNP: rs1564556995
rs1564556995
TMC1
1 1.000 0.120 9 72791920 missense variant G/A snv 0.700 0
dbSNP: rs1564583413
rs1564583413
TMC1
2 1.000 0.120 9 72830640 stop gained G/T snv 0.700 0
dbSNP: rs727503483
rs727503483
TMC1
1 1.000 0.120 9 72792318 missense variant C/A;T snv 0.700 0
dbSNP: rs757327146
rs757327146
TMC1
2 1.000 0.120 9 72789236 stop gained C/A;G;T snv 2.4E-05 0.700 0
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: rs878853229
rs878853229
TMC1
1 1.000 0.120 9 72648657 frameshift variant -/A delins 0.700 0
dbSNP: rs878853230
rs878853230
TMC1
1 1.000 0.120 9 72694707 frameshift variant A/- del 0.700 0