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: rs137852689
rs137852689
STAR
1 1.000 0.200 8 38145963 missense variant C/G snv 0.810 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: rs104894086
rs104894086
STAR
2 1.000 0.200 8 38146068 missense variant C/A;T snv 0.800 1.000 7 1995 2016
dbSNP: rs747169620
rs747169620
STAR
2 0.925 0.280 8 38146108 missense variant C/T snv 4.0E-06 0.800 1.000 4 1996 2016
dbSNP: rs104894085
rs104894085
STAR
1 1.000 0.200 8 38144359 stop gained G/A snv 4.7E-05 0.740 1.000 7 1995 2017
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: rs551783234
rs551783234
STAR
1 1.000 0.200 8 38144352 missense variant A/G snv 1.3E-05 0.710 1.000 3 2005 2011
dbSNP: rs781281145
rs781281145
STAR
1 1.000 0.200 8 38148277 stop gained G/A snv 8.0E-06 0.710 1.000 3 2004 2018
dbSNP: rs1417088430
rs1417088430
STAR
1 1.000 0.200 8 38145252 frameshift variant T/- delins 0.700 1.000 4 1995 2016
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
dbSNP: rs369232492
rs369232492
STAR
1 1.000 0.200 8 38146069 missense variant G/A;C;T snv 1.2E-05; 4.0E-06; 4.0E-06 0.700 1.000 4 2005 2014
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: 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: rs750549499
rs750549499
STAR
1 1.000 0.200 8 38148694 frameshift variant C/-;CC delins 0.700 1.000 3 1997 2011
dbSNP: rs1554502725
rs1554502725
STAR
1 1.000 0.200 8 38145234 frameshift variant CTGAGTAGCCACGTAAG/- delins 0.700 1.000 2 1996 1996
dbSNP: rs757367795
rs757367795
STAR
1 1.000 0.200 8 38145271 frameshift variant C/- delins 1.6E-05 0.700 1.000 2 1995 2016
dbSNP: rs765968701
rs765968701
STAR
1 1.000 0.200 8 38150754 splice donor variant C/A snv 7.3E-05 0.700 1.000 2 2004 2014
dbSNP: rs1554502663
rs1554502663
STAR
1 1.000 0.200 8 38144329 frameshift variant -/A delins 0.700 1.000 1 1997 1997
dbSNP: rs1554503011
rs1554503011
STAR
1 1.000 0.200 8 38148640 splice donor variant C/G snv 0.700 1.000 1 2012 2012
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: rs771895449
rs771895449
STAR
1 1.000 0.200 8 38145983 frameshift variant AG/- del 0.700 1.000 1 2005 2005
dbSNP: rs104894087
rs104894087
STAR
1 1.000 0.200 8 38144382 stop gained C/T snv 0.700 0
dbSNP: rs1254559989
rs1254559989
STAR
1 1.000 0.200 8 38146107 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1298369560
rs1298369560
STAR
1 1.000 0.200 8 38150753 splice donor variant A/G snv 4.1E-06 0.700 0