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: rs1561498701
rs1561498701
SMN1 ; SMN2
5 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
dbSNP: rs1170466474
rs1170466474
SMN1 ; SMN2
3 1.000 0.040 5 70925180 missense variant G/A snv 8.2E-05 0.700 0