Gene: PYCR1 ×
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: rs121918374
rs121918374
PYCR1
4 0.882 0.080 17 81934326 missense variant C/G;T snv 7.7E-05 0.700 1.000 4 2009 2015
dbSNP: rs144346996
rs144346996
PYCR1
3 0.925 0.080 17 81934652 splice donor variant C/G snv 2.9E-05 7.7E-05 0.700 1.000 1 2009 2009
dbSNP: rs139751598
rs139751598
PYCR1
13 0.851 0.240 17 81934931 missense variant C/T snv 2.4E-05 4.2E-05 0.700 0
dbSNP: rs121918376
rs121918376
PYCR1
3 0.882 0.080 17 81935111 missense variant G/A;C snv 5.7E-05; 8.1E-06 0.020 1.000 2 2017 2017
dbSNP: rs121918375
rs121918375
PYCR1
2 0.925 0.080 17 81934670 missense variant C/A;T snv 1.1E-05 0.010 1.000 1 2017 2017