Gene: SACS ×
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: rs1057516689
rs1057516689
SACS
2 0.925 0.160 13 23336737 frameshift variant T/- delins 7.0E-06 0.700 1.000 21 1993 2016
dbSNP: rs1555254256
rs1555254256
SACS
3 1.000 13 23354906 stop gained C/T snv 0.700 1.000 21 1993 2016
dbSNP: rs774906736
rs774906736
SACS
2 0.925 0.080 13 23332169 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 21 1993 2016