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: rs1554066397
rs1554066397
SMN1 ; SMN2
7 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 1.000 1 1998 1998