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: rs397515463
rs397515463
ELAC2
1 1.000 17 12996647 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs397515465
rs397515465
ELAC2
1 1.000 17 13014469 missense variant A/G snv 4.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs397515466
rs397515466
ELAC2
1 1.000 17 13002311 missense variant G/A snv 7.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs119484086
rs119484086
ELAC2
5 0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04 0.700 0
dbSNP: rs1555575927
rs1555575927
ELAC2
1 1.000 17 13003530 missense variant A/C snv 0.700 0
dbSNP: rs1555576642
rs1555576642
ELAC2
1 1.000 17 13005043 missense variant T/G snv 0.700 0
dbSNP: rs1567773277
rs1567773277
ELAC2
1 1.000 17 13014472 frameshift variant T/- delins 0.700 0
dbSNP: rs397515464
rs397515464
ELAC2
1 1.000 17 13005967 stop gained T/A snv 0.700 0
dbSNP: rs761385155
rs761385155
ELAC2
1 1.000 17 12994784 frameshift variant C/- del 3.6E-05 6.3E-05 0.700 0