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: rs267608058
rs267608058
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 0
dbSNP: rs63750206
rs63750206
7 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.700 0
dbSNP: rs80359763
rs80359763
5 0.851 0.240 13 32394864 frameshift variant GT/- delins 0.700 0
dbSNP: rs869312780
rs869312780
2 0.925 0.120 10 87957983 frameshift variant AG/- delins 0.700 0