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: rs1057519613
rs1057519613
SMARCAD1
2 1.000 0.120 4 94253672 splice donor variant G/A;T snv 0.700 0
dbSNP: rs895436485
rs895436485
SMARCAD1
1 1.000 0.120 4 94253674 splice region variant A/G;T snv 0.700 0