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: rs104894278
rs104894278
PTS
2 0.925 0.120 11 112228649 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs104894279
rs104894279
PTS
2 0.925 0.120 11 112233464 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs794726656
rs794726656
PTS
1 1.000 11 112233478 frameshift variant GTTCTTCCTGTAGG/- del 7.0E-06 0.700 0