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: rs397515427
rs397515427
MEGF8
1 1.000 19 42356848 missense variant G/A;C snv 5.3E-06 0.800 1.000 1 2012 2012
dbSNP: rs397515428
rs397515428
MEGF8
1 1.000 19 42375537 missense variant A/G snv 0.800 1.000 1 2012 2012
dbSNP: rs1206116606
rs1206116606
MEGF8
1 1.000 19 42344074 splice donor variant G/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs397514621
rs397514621
MEGF8
1 1.000 19 42336904 stop gained C/T snv 4.0E-06 7.0E-06 0.700 0