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: rs387906959
rs387906959
COG6
1 1.000 13 39723394 missense variant G/C;T snv 4.0E-06 0.800 1.000 1 2010 2010
dbSNP: rs1259563970
rs1259563970
COG6 ; MIR4305
1 1.000 13 39665114 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1292534396
rs1292534396
COG6
2 0.925 0.280 13 39719778 stop gained T/G snv 8.0E-06 1.4E-05 0.700 0
dbSNP: rs1555277827
rs1555277827
COG6
1 1.000 13 39699572 frameshift variant -/A delins 0.700 0
dbSNP: rs200177031
rs200177031
COG6
1 1.000 13 39677550 stop gained C/T snv 3.2E-05 3.5E-05 0.700 0
dbSNP: rs752232501
rs752232501
COG6
1 1.000 13 39655727 start lost A/C;G snv 4.7E-06 0.700 0
dbSNP: rs756826030
rs756826030
COG6
1 1.000 13 39682261 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.700 0