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: rs121434365
rs121434365
GTF2H5
1 1.000 6 158192003 missense variant T/A;C snv 4.0E-06 0.800 1.000 1 2004 2004
dbSNP: rs121434364
rs121434364
GTF2H5
1 1.000 6 158192107 stop gained C/G;T snv 4.0E-06; 3.6E-05 0.700 0
dbSNP: rs765378190
rs765378190
GTF2H5
1 1.000 6 158191975 splice acceptor variant A/G snv 4.0E-06 7.0E-06 0.700 0