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: rs1057519313
rs1057519313
SLC6A9
1 1.000 1 44001590 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519314
rs1057519314
SLC6A9
1 1.000 1 44000805 stop gained G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519315
rs1057519315
SLC6A9
1 1.000 1 44002863 frameshift variant TTGAC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs201437896
rs201437896
SLC6A9
1 1.000 1 44002538 stop gained G/A snv 4.0E-06 0.700 0