Gene: CTNS ×
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: rs113994205
rs113994205
CTNS ; LOC105371492
5 0.827 0.160 17 3655305 stop gained G/A snv 4.8E-05 9.8E-05 0.020 1.000 2 2002 2019
dbSNP: rs121908125
rs121908125
CTNS ; LOC105371492
3 0.882 0.160 17 3655304 stop gained G/A;C snv 8.0E-06 0.020 1.000 2 2002 2019