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: rs606231473
rs606231473
2 1.000 1 36472313 missense variant G/A snv 0.800 0
dbSNP: rs138156467
rs138156467
1 1.000 1 36468158 stop gained C/T snv 2.6E-04 2.6E-04 0.700 1.000 1 2015 2015
dbSNP: rs606231474
rs606231474
1 1.000 1 36471473 frameshift variant C/- delins 0.700 0
dbSNP: rs606231475
rs606231475
1 1.000 1 36472272 frameshift variant TCGCTCCAGTGGCCAG/- delins 0.700 0
dbSNP: rs759302795
rs759302795
1 1.000 1 36472561 frameshift variant C/- del 7.0E-06 0.700 0
dbSNP: rs879253750
rs879253750
1 1.000 1 36472141 splice acceptor variant T/A snv 0.700 0
dbSNP: rs890101650
rs890101650
1 1.000 1 36471501 frameshift variant -/C delins 4.0E-06 0.700 0