Gene: POT1 ×
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: rs756198077
rs756198077
POT1
1 1.000 0.040 7 124842883 stop gained G/A snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs947005337
rs947005337
POT1
2 0.925 0.120 7 124870933 missense variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019