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: rs1230837323
rs1230837323
RNH1
1 1.000 11 498804 synonymous variant G/A snv 4.2E-06 0.010 1.000 1 2007 2007
dbSNP: rs765963961
rs765963961
VASP ; LOC107985315
1 1.000 19 45522741 missense variant C/A;T snv 4.2E-06 0.010 1.000 1 2007 2007