Gene: SMN1 ×
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: rs1561500885
rs1561500885
SMN1 ; SMN2
2 1.000 0.040 5 70946138 missense variant T/C snv 0.700 1.000 1 2007 2007