Gene: PTBP1 ×
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: rs1406023293
rs1406023293
PTBP1
1 1.000 0.080 19 805563 missense variant G/A snv 4.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs775085447
rs775085447
PTBP1
1 1.000 0.080 19 808428 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2016 2016