Gene: GM2A ×
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: rs1048719
rs1048719
GM2A
2 0.925 0.080 5 151253271 missense variant G/A snv 6.1E-02 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs2075783
rs2075783
GM2A
2 0.925 0.080 5 151267219 3 prime UTR variant A/C snv 0.22 0.010 1.000 1 2015 2015