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: rs376663459
rs376663459
COG4
1 1.000 16 70514350 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 2 2009 2011
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs267606740
rs267606740
COG4
2 0.925 0.040 16 70481397 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs387907202
rs387907202
COG4
2 1.000 16 70512280 stop gained C/A;T snv 0.700 0
dbSNP: rs387907203
rs387907203
COG4
2 1.000 16 70481062 missense variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs937887233
rs937887233
SF3B3 ; COG4
1 1.000 16 70523538 frameshift variant C/- delins 7.0E-06 0.700 0