Gene: PNPLA6 ×
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: rs587777181
rs587777181
PNPLA6
1 1.000 0.160 19 7556502 missense variant C/T snv 0.800 1.000 2 2014 2014
dbSNP: rs587777182
rs587777182
PNPLA6
1 1.000 0.160 19 7557185 missense variant G/A snv 4.0E-06 0.800 1.000 2 2014 2014
dbSNP: rs587777183
rs587777183
PNPLA6
1 1.000 0.160 19 7556526 missense variant T/C snv 0.800 1.000 2 2014 2014
dbSNP: rs587777615
rs587777615
PNPLA6
1 1.000 0.160 19 7550003 missense variant G/T snv 0.800 1.000 2 2014 2014
dbSNP: rs587777854
rs587777854
PNPLA6
1 1.000 0.160 19 7558861 missense variant C/G;T snv 4.1E-06; 1.2E-05 0.800 1.000 2 2014 2014
dbSNP: rs374434303
rs374434303
PNPLA6
4 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 1.000 2 2014 2014
dbSNP: rs541098659
rs541098659
PNPLA6
1 1.000 0.160 19 7556463 missense variant C/T snv 8.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs587777853
rs587777853
PNPLA6
1 1.000 0.160 19 7542054 frameshift variant -/G delins 0.700 0
dbSNP: rs606231249
rs606231249
PNPLA6
1 1.000 0.160 19 7551361 splice acceptor variant G/C;T snv 0.700 0
dbSNP: rs748506175
rs748506175
PNPLA6
1 1.000 0.160 19 7557222 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs150230845
rs150230845
PNPLA6
1 1.000 0.160 19 7558983 stop gained G/A;C snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015