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: rs397509395
rs397509395
FIG4
1 1.000 0.160 6 109727130 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs397514707
rs397514707
FIG4
1 1.000 0.160 6 109735176 missense variant T/C snv 7.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs397509394
rs397509394
FIG4
1 1.000 0.160 6 109760372 frameshift variant GT/- del 0.700 0
dbSNP: rs776005417
rs776005417
FIG4
4 0.851 0.240 6 109738415 stop gained G/A snv 3.2E-05 2.2E-04 0.700 0
dbSNP: rs786200937
rs786200937
FIG4
1 1.000 0.160 6 109741498 frameshift variant TAAATTTG/- delins 2.1E-05 0.700 0