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: rs267607205
rs267607205
KRT74
1 1.000 12 52573334 missense variant G/A;C;T snv 2.4E-05 0.800 1.000 1 2010 2010
dbSNP: rs267607478
rs267607478
KRT74
1 1.000 12 52567169 splice acceptor variant C/T snv 0.700 0