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: rs28942109
rs28942109
SAR1B
3 0.882 0.160 5 134608443 missense variant C/T snv 2.4E-05 3.5E-05 0.800 1.000 5 2003 2009
dbSNP: rs121917846
rs121917846
SAR1B
1 1.000 0.120 5 134621002 splice acceptor variant C/T snv 0.800 1.000 3 2003 2009
dbSNP: rs28942110
rs28942110
SAR1B
1 1.000 0.120 5 134607010 missense variant A/T snv 2.0E-05 7.0E-06 0.800 1.000 3 2003 2009
dbSNP: rs1254114609
rs1254114609
SAR1B
1 1.000 0.120 5 134612711 missense variant T/C snv 0.700 0
dbSNP: rs137853125
rs137853125
SAR1B
1 1.000 0.120 5 134608488 stop gained C/A snv 2.0E-05 0.700 0
dbSNP: rs137853126
rs137853126
SAR1B
1 1.000 0.120 5 134606993 missense variant C/A snv 7.0E-06 0.700 0