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: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs281864996
rs281864996
GNPTAB
10 0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06 0.700 0
dbSNP: rs397507562
rs397507562
GNPTAB
6 0.851 0.240 12 101757311 splice acceptor variant C/G;T snv 0.700 0