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: rs1556885815
rs1556885815
SMC1A
1 1.000 0.080 X 53381057 missense variant A/C snv 0.700 0
dbSNP: rs1556886124
rs1556886124
SMC1A
1 1.000 0.080 X 53383124 stop gained G/A snv 0.700 0
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: rs1569356968
rs1569356968
SMC1A ; MIR6857
5 0.882 0.200 X 53405268 stop gained C/A snv 0.700 0
dbSNP: rs587784404
rs587784404
SMC1A
1 1.000 0.080 X 53409491 missense variant G/T snv 0.700 0
dbSNP: rs587784405
rs587784405
SMC1A
1 1.000 0.080 X 53409150 missense variant T/C snv 0.700 0
dbSNP: rs587784406
rs587784406
SMC1A ; MIR6857
1 1.000 0.080 X 53405650 missense variant A/G snv 0.700 0
dbSNP: rs587784407
rs587784407
SMC1A ; MIR6857
1 1.000 0.080 X 53405527 missense variant C/T snv 0.700 0
dbSNP: rs587784410
rs587784410
SMC1A
1 1.000 0.080 X 53403659 missense variant A/T snv 0.700 0
dbSNP: rs587784415
rs587784415
SMC1A
1 1.000 0.080 X 53383157 missense variant T/A snv 0.700 0
dbSNP: rs587784419
rs587784419
SMC1A
1 1.000 0.080 X 53380681 missense variant A/G snv 0.700 0
dbSNP: rs587784421
rs587784421
SMC1A
1 1.000 0.080 X 53413300 stop gained G/A snv 0.700 0
dbSNP: rs587784422
rs587784422
SMC1A
1 1.000 0.080 X 53413261 missense variant G/A snv 0.700 0
dbSNP: rs587784423
rs587784423
SMC1A
1 1.000 0.080 X 53413140 splice acceptor variant T/C 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: rs797045991
rs797045991
SMC1A
1 1.000 0.080 X 53411871 inframe deletion CTT/- delins 0.700 0
dbSNP: rs797045992
rs797045992
SMC1A ; MIR6857
1 1.000 0.080 X 53405255 inframe deletion TCT/- del 0.700 0
dbSNP: rs886044819
rs886044819
SMC1A
1 1.000 0.080 X 53399704 missense variant C/T snv 0.700 0