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: rs1057518670
rs1057518670
SMC1A
1 1.000 0.080 X 53415163 stop gained G/C snv 0.700 0
dbSNP: rs1057519398
rs1057519398
SMC1A
2 1.000 0.080 X 53409218 frameshift variant -/G ins 0.700 0
dbSNP: rs1057519499
rs1057519499
SMC1A
1 1.000 0.080 X 53382296 missense variant T/C snv 0.700 0
dbSNP: rs122454122
rs122454122
SMC1A
1 1.000 0.080 X 53409129 missense variant T/G snv 0.800 1.000 8 2006 2013
dbSNP: rs122454123
rs122454123
SMC1A
1 1.000 0.080 X 53409120 missense variant C/T snv 0.800 1.000 9 2006 2019
dbSNP: rs1556885815
rs1556885815
SMC1A
1 1.000 0.080 X 53381057 missense variant A/C snv 0.700 0
dbSNP: rs1556886034
rs1556886034
SMC1A
4 0.925 0.080 X 53382594 missense variant C/T snv 0.700 1.000 1 2015 2015
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: rs1556890815
rs1556890815
SMC1A
1 1.000 0.080 X 53413260 missense variant C/T snv 0.800 1.000 8 2006 2013
dbSNP: rs1556891104
rs1556891104
SMC1A
1 1.000 0.080 X 53415155 missense variant T/C snv 0.700 0
dbSNP: rs1556892359
rs1556892359
SMC1A ; RIBC1
1 1.000 0.080 X 53422506 missense variant C/T snv 0.700 0
dbSNP: rs1569351341
rs1569351341
SMC1A
1 1.000 0.080 X 53380142 inframe deletion GAGGTCGAAGGT/- delins 0.700 0
dbSNP: rs1569351534
rs1569351534
SMC1A
1 1.000 0.080 X 53381064 missense variant A/T snv 0.700 0
dbSNP: rs1569351907
rs1569351907
SMC1A
1 1.000 0.080 X 53382640 stop gained G/A 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: rs1569356968
rs1569356968
SMC1A ; MIR6857
5 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
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: 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: rs587784404
rs587784404
SMC1A
1 1.000 0.080 X 53409491 missense variant G/T snv 0.700 0