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: rs1569351341
rs1569351341
SMC1A
1 1.000 0.080 X 53380142 inframe deletion GAGGTCGAAGGT/- delins 0.700 0
dbSNP: rs587784419
rs587784419
SMC1A
1 1.000 0.080 X 53380681 missense variant A/G snv 0.700 0
dbSNP: rs863225459
rs863225459
SMC1A
1 1.000 0.080 X 53380685 frameshift variant -/GGCC delins 0.700 1.000 1 2015 2015
dbSNP: rs1556885815
rs1556885815
SMC1A
1 1.000 0.080 X 53381057 missense variant A/C snv 0.700 0
dbSNP: rs1569351534
rs1569351534
SMC1A
1 1.000 0.080 X 53381064 missense variant A/T snv 0.700 0
dbSNP: rs1057519499
rs1057519499
SMC1A
1 1.000 0.080 X 53382296 missense variant T/C snv 0.700 0
dbSNP: rs587784418
rs587784418
SMC1A
1 1.000 0.080 X 53382537 missense variant T/C snv 0.800 1.000 8 2006 2013
dbSNP: rs1556886034
rs1556886034
SMC1A
4 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1569351907
rs1569351907
SMC1A
1 1.000 0.080 X 53382640 stop gained G/A snv 0.700 0
dbSNP: rs587784416
rs587784416
SMC1A
1 1.000 0.080 X 53382645 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs1556886124
rs1556886124
SMC1A
1 1.000 0.080 X 53383124 stop gained G/A snv 0.700 0
dbSNP: rs1556886127
rs1556886127
SMC1A
1 1.000 0.080 X 53383145 frameshift variant TGGCCTTCATGTTGGGGGCGGCAATAC/CTGCA delins 0.700 1.000 1 2007 2007
dbSNP: rs587784415
rs587784415
SMC1A
1 1.000 0.080 X 53383157 missense variant T/A snv 0.700 0
dbSNP: rs727503774
rs727503774
SMC1A
2 0.925 0.240 X 53383255 splice acceptor variant T/C snv 0.700 0
dbSNP: rs863225458
rs863225458
SMC1A
1 1.000 0.080 X 53396233 frameshift variant GACT/- delins 0.700 1.000 2 2015 2019
dbSNP: rs797045069
rs797045069
SMC1A
1 1.000 0.080 X 53399604 frameshift variant T/- del 0.700 1.000 2 2016 2019
dbSNP: rs886044819
rs886044819
SMC1A
1 1.000 0.080 X 53399704 missense variant C/T snv 0.700 0
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: 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: rs387906702
rs387906702
SMC1A
16 0.807 0.200 X 53403635 missense variant A/G snv 0.800 1.000 8 2006 2013
dbSNP: rs587784410
rs587784410
SMC1A
1 1.000 0.080 X 53403659 missense variant A/T snv 0.700 0
dbSNP: rs782176647
rs782176647
SMC1A
1 1.000 0.080 X 53405076 missense variant C/A;T snv 1.9E-05 0.700 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