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: rs139877390
rs139877390
1 1.000 0.080 17 42798167 missense variant T/C snv 1.7E-04; 4.0E-06 1.2E-04 0.700 0
dbSNP: rs757472611
rs757472611
1 1.000 0.080 17 42798482 frameshift variant -/G delins 4.0E-06 1.4E-05 0.700 0