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: rs119484086
rs119484086
ELAC2
5 0.851 0.080 17 12992957 missense variant C/A;T snv 4.0E-06; 5.3E-04 0.800 1.000 10 2000 2008
dbSNP: rs119484087
rs119484087
ELAC2
2 0.925 0.040 17 12995006 missense variant T/A;C snv 1.3E-03; 4.8E-05 0.700 1.000 10 2000 2008
dbSNP: rs752234492
rs752234492
ELAC2
1 1.000 17 12998473 missense variant C/G snv 1.6E-05 7.0E-06 0.700 1.000 10 2000 2008
dbSNP: rs770669443
rs770669443
ELAC2
1 1.000 17 12992883 missense variant C/G snv 7.4E-04; 4.0E-06 0.700 1.000 10 2000 2008
dbSNP: rs148419785
rs148419785
ELAC2
1 1.000 17 13011710 missense variant C/G;T snv 4.0E-06; 1.4E-04 0.700 0
dbSNP: rs4792311
rs4792311
ELAC2
9 0.776 0.160 17 13011692 missense variant G/A;C snv 0.27 0.700 0
dbSNP: rs5030739
rs5030739
ELAC2
8 0.776 0.160 17 12996585 missense variant C/T snv 3.5E-02 2.9E-02 0.700 0