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: rs374530179
rs374530179
1 1.000 0.080 19 11212067 stop gained G/A snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs730882238
rs730882238
2 0.925 0.080 19 11243279 frameshift variant TTAG/- delins 9.8E-05 0.700 0