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: rs786204420
rs786204420
CTNS ; LOC105371492
1 1.000 0.080 17 3659926 frameshift variant -/G delins 0.700 1.000 5 1998 2016
dbSNP: rs1226342324
rs1226342324
CTNS ; LOC105371493
1 1.000 0.080 17 3640222 frameshift variant GACT/- delins 0.010 1.000 1 2016 2016