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: rs121918295
rs121918295
FERMT3
1 1.000 0.080 11 64220649 stop gained C/T snv 0.710 1.000 1 2009 2009
dbSNP: rs121918297
rs121918297
FERMT3
2 0.925 0.080 11 64223094 stop gained C/T snv 7.0E-06 0.710 < 0.001 1 2009 2009
dbSNP: rs121918298
rs121918298
FERMT3
1 1.000 0.080 11 64211648 stop gained G/A snv 0.710 < 0.001 1 2009 2009
dbSNP: rs121918296
rs121918296
FERMT3
1 1.000 0.080 11 64207412 stop gained G/A snv 0.700 0
dbSNP: rs1286499329
rs1286499329
FERMT3
1 1.000 0.080 11 64210609 splice acceptor variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs775138431
rs775138431
FERMT3
1 1.000 0.080 11 64220290 frameshift variant T/- del 7.0E-06 0.700 0