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: rs267607035
rs267607035
SEPSECS
1 1.000 4 25152049 missense variant C/T snv 2.0E-05 1.4E-05 0.800 1.000 2 2010 2015
dbSNP: rs267607036
rs267607036
SEPSECS
1 1.000 4 25144799 missense variant T/C snv 0.800 1.000 2 2010 2015
dbSNP: rs1461368206
rs1461368206
SEPSECS
1 1.000 4 25144826 stop gained G/C snv 2.0E-05 1.4E-05 0.710 1.000 2 2010 2015
dbSNP: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs773876739
rs773876739
SEPSECS
1 1.000 4 25123971 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
dbSNP: rs201308300
rs201308300
LAMC2
1 1.000 1 183227579 stop gained C/A snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs201427786
rs201427786
SEPSECS
1 1.000 4 25124150 stop gained G/C;T snv 2.4E-04 1.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs771464510
rs771464510
LAMC2
1 1.000 1 183225625 missense variant G/C snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015