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: rs528689432
rs528689432
CBS
1 1.000 0.160 21 43063912 stop gained A/T snv 0.700 0
dbSNP: rs745764562
rs745764562
CBS
1 1.000 0.160 21 43060505 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs746575551
rs746575551
CBS
1 1.000 0.160 21 43063004 stop gained G/A;C snv 1.2E-05 0.700 0
dbSNP: rs751464024
rs751464024
CBS
2 0.925 0.160 21 43071984 splice donor variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs755625628
rs755625628
CBS
1 1.000 0.160 21 43066319 frameshift variant -/CGCA delins 4.0E-06 0.700 0
dbSNP: rs760609383
rs760609383
CBS
1 1.000 0.160 21 43053985 splice acceptor variant T/A;G snv 4.0E-06 0.700 0
dbSNP: rs766453711
rs766453711
CBS
2 0.925 0.160 21 43063990 splice acceptor variant C/- delins 4.1E-06 0.700 0
dbSNP: rs767036273
rs767036273
CBS
1 1.000 0.160 21 43065680 frameshift variant A/- del 0.700 0
dbSNP: rs773734233
rs773734233
CBS
2 0.925 0.160 21 43065239 missense variant C/T snv 1.2E-05 1.0E-04 0.700 0
dbSNP: rs779270933
rs779270933
CBS
2 0.925 0.160 21 43063003 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs794727083
rs794727083
CBS
1 1.000 0.160 21 43059231 frameshift variant C/- del 0.700 0
dbSNP: rs797044607
rs797044607
PKHD1
1 1.000 0.160 6 52024787 frameshift variant C/- delins 0.700 0
dbSNP: rs863223434
rs863223434
CBS
1 1.000 0.160 21 43058912 missense variant G/A snv 1.1E-05 0.700 0
dbSNP: rs863223435
rs863223435
CBS
1 1.000 0.160 21 43068572 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs865990681
rs865990681
CBS
1 1.000 0.160 21 43058254 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs866630296
rs866630296
CBS
1 1.000 0.160 21 43058832 splice donor variant A/C;G snv 0.700 0
dbSNP: rs5742905
rs5742905
CBS
22 0.701 0.360 21 43063074 missense variant A/G snv 0.850 0.974 39 1984 2019
dbSNP: rs375846341
rs375846341
CBS
3 0.882 0.160 21 43058970 splice acceptor variant T/G snv 7.9E-05 0.700 1.000 10 1992 2015
dbSNP: rs121964962
rs121964962
CBS
5 0.827 0.200 21 43062988 missense variant C/T snv 1.6E-04 0.810 1.000 33 1993 2018
dbSNP: rs121964964
rs121964964
CBS
4 0.851 0.160 21 43066353 missense variant G/A;C snv 2.1E-04 0.800 1.000 29 1993 2014
dbSNP: rs28934891
rs28934891
CBS
4 0.851 0.160 21 43058862 missense variant C/T snv 3.3E-04 0.800 1.000 35 1994 2015
dbSNP: rs121964969
rs121964969
CBS
3 0.882 0.160 21 43063931 missense variant C/T snv 8.0E-06 0.810 1.000 31 1994 2017
dbSNP: rs786204608
rs786204608
CBS
1 1.000 0.160 21 43068592 missense variant G/C snv 4.0E-06 0.800 1.000 31 1994 2014
dbSNP: rs760214620
rs760214620
CBS
1 1.000 0.160 21 43066348 missense variant C/T snv 4.0E-06 0.810 1.000 29 1994 2014
dbSNP: rs121964972
rs121964972
CBS
5 0.851 0.160 21 43060528 missense variant G/A snv 2.9E-05 0.800 1.000 28 1994 2014