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: rs765904696
rs765904696
STAR
1 1.000 0.200 8 38148207 frameshift variant TC/- delins 0.700 0
dbSNP: rs193922393
rs193922393
STAR
1 1.000 0.200 8 38148684 frameshift variant A/- del 7.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs104894089
rs104894089
STAR
1 1.000 0.200 8 38146054 missense variant C/T snv 8.0E-06 1.4E-05 0.700 1.000 3 2006 2017
dbSNP: rs387907235
rs387907235
STAR
1 1.000 0.200 8 38146036 stop gained G/A snv 8.0E-06 1.4E-05 0.700 1.000 3 1995 2016
dbSNP: rs1350908961
rs1350908961
STAR
1 1.000 0.200 8 38144320 frameshift variant G/- delins 4.1E-06 2.1E-05 0.700 0
dbSNP: rs104894090
rs104894090
STAR
2 0.925 0.280 8 38146051 missense variant G/A snv 4.4E-05 2.8E-05 0.710 1.000 4 2006 2016
dbSNP: rs762245736
rs762245736
STAR
1 1.000 0.200 8 38144307 missense variant A/G snv 8.3E-06 2.8E-05 0.700 1.000 4 1995 1999
dbSNP: rs137852690
rs137852690
STAR
1 1.000 0.200 8 38145313 missense variant G/A snv 4.0E-05 2.8E-05 0.810 1.000 4 1995 1999
dbSNP: rs1446362214
rs1446362214
STAR
1 1.000 0.200 8 38145292 missense variant A/G snv 1.2E-05 4.2E-05 0.700 1.000 4 1995 1999