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: rs104894281
rs104894281
NECTIN1
3 0.882 0.320 11 119677734 stop gained C/T snv 0.710 1.000 1 2006 2006
dbSNP: rs876657374
rs876657374
NECTIN1
1 1.000 0.320 11 119677732 frameshift variant C/- delins 0.700 0
dbSNP: rs878853255
rs878853255
NECTIN1
1 1.000 0.320 11 119675192 frameshift variant -/A delins 0.700 0
dbSNP: rs769476648
rs769476648
NECTIN1
1 1.000 0.320 11 119678445 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015