Source: CURATED ×
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: rs1557196978
rs1557196978
ATP6AP1
8 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018
dbSNP: rs1057518871
rs1057518871
COL5A1
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
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: rs140119177
rs140119177
FAM120AOS
7 0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04 0.700 0
dbSNP: rs267607093
rs267607093
SRD5A3
14 0.851 0.160 4 55359444 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs72653706
rs72653706
ABCC6
21 0.695 0.480 16 16163078 stop gained G/A snv 1.4E-03 1.2E-03 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0