Gene: PURA ×
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: rs1554129040
rs1554129040
PURA
1 5 140114334 frameshift variant -/G delins 0.700 0
dbSNP: rs587782991
rs587782991
PURA
6 0.882 0.080 5 140114991 inframe deletion TCT/- delins 0.700 0
dbSNP: rs587782992
rs587782992
PURA
5 0.882 0.080 5 140114483 frameshift variant TC/-;TCTC delins 0.700 0
dbSNP: rs587782993
rs587782993
PURA
6 0.882 0.080 5 140114737 stop gained C/T snv 0.700 0
dbSNP: rs587782994
rs587782994
PURA
6 0.882 0.080 5 140114470 missense variant A/G snv 0.700 0
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
dbSNP: rs587782996
rs587782996
PURA
5 0.925 0.080 5 140114544 stop gained C/G;T snv 9.0E-06 0.700 0
dbSNP: rs587782997
rs587782997
PURA
5 0.925 0.080 5 140114964 stop gained C/G snv 0.700 0
dbSNP: rs587782998
rs587782998
PURA
5 0.882 0.080 5 140114651 missense variant T/A snv 0.700 0
dbSNP: rs587782999
rs587782999
PURA
6 0.882 0.080 5 140114446 missense variant G/A;C snv 0.700 0
dbSNP: rs587783000
rs587783000
PURA
5 0.925 0.080 5 140114444 inframe deletion TCG/- del 0.700 0
dbSNP: rs587783001
rs587783001
PURA
6 0.882 0.080 5 140114777 missense variant G/C snv 0.700 0