Gene: SBDS ×
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: rs113993992
rs113993992
SBDS
3 0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs113993993
rs113993993
SBDS
9 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0