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: rs121909749
rs121909749
GLRB
2 1.000 4 157143807 missense variant G/A snv 0.800 1.000 3 2002 2013
dbSNP: rs398122856
rs398122856
GLRB
1 1.000 4 157136872 missense variant T/G snv 0.800 1.000 3 2002 2013
dbSNP: rs1415892964
rs1415892964
GLRB
1 1.000 4 157120554 splice acceptor variant A/G snv 0.700 1.000 1 2013 2013
dbSNP: rs1560962569
rs1560962569
GLRB
1 1.000 4 157136613 frameshift variant -/A delins 0.700 0
dbSNP: rs1560962636
rs1560962636
GLRB
1 1.000 4 157136641 frameshift variant C/- delins 0.700 0
dbSNP: rs281864922
rs281864922
GLRB
2 1.000 4 157136891 splice region variant G/A snv 4.8E-05 3.5E-05 0.700 0