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: rs199469707
rs199469707
TMEM237
1 1.000 2 201640915 stop gained G/A snv 6.1E-05 6.3E-05 0.700 1.000 1 2011 2011
dbSNP: rs387907131
rs387907131
TMEM237
1 1.000 2 201640264 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs748510210
rs748510210
TMEM237
1 1.000 2 201628075 splice donor variant C/A snv 1.7E-05 0.700 1.000 1 2015 2015
dbSNP: rs1445957469
rs1445957469
TMEM237
2 1.000 2 201639047 splice acceptor variant T/C snv 0.700 0
dbSNP: rs751952525
rs751952525
TMEM237
1 1.000 2 201626118 frameshift variant -/G delins 2.0E-05 0.700 0
dbSNP: rs793888505
rs793888505
TMEM237
1 1.000 2 201629728 splice donor variant C/A;T snv 8.9E-06 0.700 0
dbSNP: rs972221242
rs972221242
TMEM237
2 1.000 2 201632186 stop gained G/A snv 4.0E-06 0.700 0