Gene: ABCA12 ×
Source: UNIPROT ×
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: rs28940268
rs28940268
ABCA12
1 1.000 0.080 2 214986563 missense variant C/T snv 0.800 1.000 5 2003 2012
dbSNP: rs28940269
rs28940269
ABCA12
1 0.925 0.080 2 214986566 missense variant T/C snv 4.8E-05 4.2E-05 0.800 1.000 5 2003 2012
dbSNP: rs28940270
rs28940270
ABCA12
1 1.000 0.080 2 214982225 missense variant C/T snv 4.0E-06 7.0E-06 0.800 1.000 5 2003 2012
dbSNP: rs28940271
rs28940271
ABCA12
1 1.000 0.080 2 214980608 missense variant C/T snv 0.800 1.000 5 2003 2012
dbSNP: rs28940568
rs28940568
ABCA12
1 1.000 0.080 2 214978830 missense variant C/T snv 1.2E-05 2.1E-05 0.800 1.000 5 2003 2012
dbSNP: rs1295935868
rs1295935868
ABCA12
1 1.000 0.080 2 215031849 missense variant T/G snv 8.0E-06 7.0E-06 0.700 1.000 5 2003 2012
dbSNP: rs1457513156
rs1457513156
ABCA12
1 1.000 0.080 2 214980547 missense variant C/A snv 4.0E-06 0.700 1.000 5 2003 2012
dbSNP: rs763858530
rs763858530
ABCA12 ; SNHG31
1 1.000 0.080 2 214959024 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 2003 2012
dbSNP: rs1263698595
rs1263698595
ABCA12
1 1.000 0.080 2 214982285 missense variant A/G snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs181314573
rs181314573
ABCA12
1 1.000 0.080 2 214974853 missense variant G/A snv 1.6E-04 7.0E-05 0.700 0