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: rs587784319
rs587784319
PCNT
1 1.000 0.240 21 46430115 frameshift variant T/- del 0.700 0
dbSNP: rs587784320
rs587784320
PCNT
1 1.000 0.240 21 46436019 frameshift variant -/T delins 0.700 0
dbSNP: rs587784321
rs587784321
PCNT
1 1.000 0.240 21 46436069 stop gained C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs755084205
rs755084205
PCNT
1 1.000 0.240 21 46388741 splice acceptor variant G/A snv 1.6E-05 0.700 0
dbSNP: rs757577162
rs757577162
PCNT
1 1.000 0.240 21 46412065 stop gained C/T snv 1.3E-05 2.1E-05 0.700 0
dbSNP: rs797045875
rs797045875
PCNT
1 1.000 0.240 21 46354019 frameshift variant AAAG/- delins 0.700 0
dbSNP: rs797045879
rs797045879
PCNT
1 1.000 0.240 21 46401693 frameshift variant AG/- delins 7.0E-06 0.700 0