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: rs28933990
rs28933990
RLBP1
4 0.851 0.080 15 89210794 missense variant G/A;C snv 8.6E-05; 4.8E-06 0.800 1.000 1 1999 1999
dbSNP: rs786205626
rs786205626
RLBP1
2 0.925 0.080 15 89217169 inframe deletion GCAGGAAGAAGC/- delins 0.700 0