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: rs1567864804
rs1567864804
1 1.000 0.080 17 39665360 start lost A/G snv 0.700 0
dbSNP: rs397516863
rs397516863
2 0.925 0.080 17 39666077 missense variant C/A;G;T snv 0.700 0
dbSNP: rs778568339
rs778568339
2 0.925 0.080 17 39665382 frameshift variant -/AGGTGTCG delins 9.2E-05 1.4E-05 0.700 0