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: rs140376902
rs140376902
SIGMAR1
1 1.000 0.040 9 34637378 missense variant A/T snv 2.1E-05 4.2E-05 0.700 1.000 2 2015 2016
dbSNP: rs1564096221
rs1564096221
SIGMAR1
1 1.000 0.040 9 34637334 stop gained G/A snv 0.700 0
dbSNP: rs1564096761
rs1564096761
SIGMAR1
2 0.925 0.040 9 34637685 frameshift variant C/- del 0.700 0
dbSNP: rs780136067
rs780136067
SIGMAR1
2 0.925 0.040 9 34637288 frameshift variant -/G delins 1.9E-05 1.4E-05 0.700 0
dbSNP: rs796065352
rs796065352
SIGMAR1
1 1.000 0.040 9 34637546 splice donor variant C/A snv 0.700 0