Gene: TMEM216 ×
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: rs201108965
rs201108965
TMEM216
5 0.851 0.320 11 61393965 missense variant G/A;T snv 8.0E-06; 1.7E-04 0.700 1.000 5 2010 2016
dbSNP: rs11230683
rs11230683
TMEM216
3 0.882 0.320 11 61397797 stop gained C/A;G;T snv 2.8E-03; 4.0E-06; 8.0E-05 0.700 1.000 4 2010 2017
dbSNP: rs1554972547
rs1554972547
TMEM216
3 0.882 0.320 11 61393883 splice acceptor variant G/A snv 0.700 1.000 1 2010 2010