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: rs746315995
rs746315995
ABCA12
1 1.000 0.080 2 215026840 missense variant C/T snv 1.2E-05 0.700 1.000 2 2006 2006
dbSNP: rs1131692156
rs1131692156
ABCA12 ; SNHG31
1 1.000 0.080 2 214959020 splice region variant T/C snv 0.700 0
dbSNP: rs11891778
rs11891778
ABCA12
5 0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03 0.700 0
dbSNP: rs137853289
rs137853289
ABCA12 ; SNHG31
1 1.000 0.080 2 214953891 stop gained G/A;T snv 0.700 0
dbSNP: rs1553520468
rs1553520468
ABCA12 ; SNHG31
2 0.925 0.080 2 214955362 splice acceptor variant C/G snv 0.700 0
dbSNP: rs1559120651
rs1559120651
ABCA12
1 1.000 0.080 2 214968754 frameshift variant -/T delins 0.700 0
dbSNP: rs1559134341
rs1559134341
ABCA12
1 1.000 0.080 2 214990880 missense variant A/G snv 0.700 0
dbSNP: rs199503269
rs199503269
ABCA12 ; SNHG31
1 1.000 0.080 2 214937608 stop gained G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs267606622
rs267606622
ABCA12
1 1.000 0.080 2 214990791 missense variant C/T snv 0.700 0
dbSNP: rs28940269
rs28940269
ABCA12
2 0.925 0.080 2 214986566 missense variant T/C snv 4.8E-05 4.2E-05 0.700 0
dbSNP: rs387906284
rs387906284
ABCA12 ; SNHG31
1 1.000 0.080 2 214945021 frameshift variant G/- delins 0.700 0
dbSNP: rs387906285
rs387906285
ABCA12
1 1.000 0.080 2 214978432 frameshift variant T/- delins 0.700 0
dbSNP: rs761068277
rs761068277
ABCA12 ; SNHG31
1 1.000 0.080 2 214945067 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs764355087
rs764355087
ABCA12 ; SNHG31
1 1.000 0.080 2 214945097 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs771593783
rs771593783
ABCA12 ; SNHG31
1 1.000 0.080 2 214945068 missense variant G/A snv 7.0E-06 0.700 0