Gene: SMN2 ×
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: rs104893922
rs104893922
SMN1 ; SMN2
3 0.925 0.080 5 70946157 missense variant A/G snv 0.010 1.000 1 2000 2000
dbSNP: rs1428103360
rs1428103360
SMN2
2 1.000 0.040 5 70070732 missense variant A/G snv 0.010 1.000 1 2000 2000