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: rs1057518952
rs1057518952
PKHD1
3 1.000 0.080 6 52024728 frameshift variant -/C delins 0.700 0
dbSNP: rs180177039
rs180177039
BRAF
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 0
dbSNP: rs190521996
rs190521996
PMM2
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs786204707
rs786204707
PKHD1
4 0.925 0.200 6 52043636 stop gained C/T snv 0.700 0
dbSNP: rs80338701
rs80338701
PMM2
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs104894851
rs104894851
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101398920 stop gained G/T snv 0.010 1.000 1 2003 2003
dbSNP: rs104894852
rs104894852
GLA ; RPL36A-HNRNPH2
3 0.925 0.200 X 101397871 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs60890628
rs60890628
LMNA
9 0.776 0.200 1 156138507 missense variant C/T snv 1.5E-04 1.0E-04 0.010 1.000 1 2017 2017
dbSNP: rs727503503
rs727503503
TNNI3
5 0.827 0.120 19 55154070 missense variant C/T snv 0.010 1.000 1 2016 2016