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: rs122454123
rs122454123
SMC1A
1 1.000 0.080 X 53409120 missense variant C/T snv 0.800 1.000 9 2006 2019
dbSNP: rs122454122
rs122454122
SMC1A
1 1.000 0.080 X 53409129 missense variant T/G snv 0.800 1.000 8 2006 2013
dbSNP: rs1556890815
rs1556890815
SMC1A
1 1.000 0.080 X 53413260 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.800 1.000 8 2006 2013
dbSNP: rs587784403
rs587784403
SMC1A
1 1.000 0.080 X 53411822 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs587784408
rs587784408
SMC1A
1 1.000 0.080 X 53405130 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs587784409
rs587784409
SMC1A
1 1.000 0.080 X 53405077 missense variant G/A snv 0.800 1.000 8 2006 2013
dbSNP: rs587784416
rs587784416
SMC1A
1 1.000 0.080 X 53382645 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs587784418
rs587784418
SMC1A
1 1.000 0.080 X 53382537 missense variant T/C snv 0.800 1.000 8 2006 2013
dbSNP: rs587784420
rs587784420
SMC1A
1 1.000 0.080 X 53413426 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs797045993
rs797045993
SMC1A
1 1.000 0.080 X 53403617 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs587784412
rs587784412
SMC1A
1 1.000 0.080 X 53403618 missense variant G/A snv 0.700 1.000 2 2007 2014
dbSNP: rs727503773
rs727503773
SMC1A
7 0.882 0.160 X 53412950 inframe deletion TCT/- delins 0.700 1.000 2 2009 2019
dbSNP: rs797045069
rs797045069
SMC1A
1 1.000 0.080 X 53399604 frameshift variant T/- del 0.700 1.000 2 2016 2019
dbSNP: rs863225458
rs863225458
SMC1A
1 1.000 0.080 X 53396233 frameshift variant GACT/- delins 0.700 1.000 2 2015 2019
dbSNP: rs1556886034
rs1556886034
SMC1A
4 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1556886127
rs1556886127
SMC1A
1 1.000 0.080 X 53383145 frameshift variant TGGCCTTCATGTTGGGGGCGGCAATAC/CTGCA delins 0.700 1.000 1 2007 2007
dbSNP: rs1569356550
rs1569356550
SMC1A
1 1.000 0.080 X 53403566 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1569356555
rs1569356555
SMC1A
1 1.000 0.080 X 53403591 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs1569358628
rs1569358628
SMC1A
1 1.000 0.080 X 53411903 splice acceptor variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs1569359048
rs1569359048
SMC1A
1 1.000 0.080 X 53413099 frameshift variant C/- delins 0.700 1.000 1 2019 2019
dbSNP: rs1569359535
rs1569359535
SMC1A
1 1.000 0.080 X 53415151 missense variant T/A snv 0.700 1.000 1 2019 2019
dbSNP: rs1569359540
rs1569359540
SMC1A
1 1.000 0.080 X 53415169 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs863225459
rs863225459
SMC1A
1 1.000 0.080 X 53380685 frameshift variant -/GGCC delins 0.700 1.000 1 2015 2015
dbSNP: rs1057518670
rs1057518670
SMC1A
1 1.000 0.080 X 53415163 stop gained G/C snv 0.700 0