Gene: TMEM186 ×
Source: CLINVAR ×
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: 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: rs724159991
rs724159991
ABAT ; TMEM186
5 1.000 0.080 16 8781360 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs1555494322
rs1555494322
ABAT ; TMEM186
1 1.000 0.080 16 8781387 missense variant T/C snv 0.700 0