Source: CURATED ×
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: rs121434578
rs121434578
ABAT
5 1.000 0.080 16 8768248 missense variant G/A snv 0.800 1.000 3 1999 2013
dbSNP: rs1567310537
rs1567310537
ABAT
1 1.000 0.080 16 8764744 missense variant C/T snv 0.700 1.000 2 2016 2019
dbSNP: rs724159990
rs724159990
ABAT
5 1.000 0.080 16 8768220 missense variant C/T snv 0.700 1.000 2 2015 2019
dbSNP: rs781555217
rs781555217
ABAT ; TMEM186
1 1.000 0.080 16 8781320 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 2 2016 2019
dbSNP: rs1057523345
rs1057523345
ABAT ; TMEM186
1 1.000 0.080 16 8781321 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1567300736
rs1567300736
ABAT
1 1.000 0.080 16 8746099 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1567312671
rs1567312671
ABAT
1 1.000 0.080 16 8768227 missense variant T/G snv 0.700 1.000 1 2019 2019
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
5 1.000 0.080 16 8781360 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
5 1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs1330995774
rs1330995774
ABAT
1 1.000 0.080 16 8776350 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1555492932
rs1555492932
ABAT
1 1.000 0.080 16 8772778 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1555494322
rs1555494322
ABAT ; TMEM186
1 1.000 0.080 16 8781387 missense variant T/C snv 0.700 0