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: rs1554840869
rs1554840869
ACTR1A ; SUFU
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564654588
rs1564654588
ACTR1A ; SUFU
2 0.925 0.160 10 102504327 stop gained A/T snv 0.700 0
dbSNP: rs1554841447
rs1554841447
SUFU
2 0.925 0.160 10 102509168 splice acceptor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1060501108
rs1060501108
SUFU
2 0.925 0.160 10 102549993 frameshift variant G/- del 0.700 0
dbSNP: rs1060501109
rs1060501109
SUFU
2 0.925 0.160 10 102550088 stop gained C/T snv 1.4E-05 0.700 0
dbSNP: rs1564676479
rs1564676479
SUFU
2 0.925 0.160 10 102550107 splice donor variant G/A snv 0.700 1.000 2 2012 2014
dbSNP: rs1554852279
rs1554852279
SUFU
2 0.925 0.160 10 102592711 frameshift variant -/TA delins 0.700 1.000 1 2012 2012
dbSNP: rs1564698683
rs1564698683
SUFU
2 0.925 0.160 10 102597207 stop gained G/A snv 0.700 0
dbSNP: rs1477199832
rs1477199832
SUFU
2 0.925 0.160 10 102597223 frameshift variant -/C delins 0.700 0
dbSNP: rs1564698850
rs1564698850
SUFU
2 0.925 0.160 10 102597278 frameshift variant -/TGTGT ins 0.700 0
dbSNP: rs587776578
rs587776578
SUFU
3 0.882 0.160 10 102599545 splice donor variant G/A;C snv 0.700 1.000 3 2011 2014
dbSNP: rs1060501105
rs1060501105
SUFU
2 0.925 0.160 10 102615266 splice acceptor variant A/T snv 0.700 0
dbSNP: rs121434397
rs121434397
PTCH2
1 1.000 0.160 1 44827617 missense variant C/T snv 2.8E-05 7.0E-06 0.800 1.000 5 2004 2015
dbSNP: rs56126236
rs56126236
PTCH2
2 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 1.000 1 2013 2013
dbSNP: rs1356844630
rs1356844630
GLI1
5 0.925 0.160 12 57470802 stop gained C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1554689667
rs1554689667
PTCH1
1 1.000 0.160 9 95449847 frameshift variant ATAT/GGA delins 0.700 0
dbSNP: rs1131690985
rs1131690985
PTCH1
3 0.925 0.200 9 95449891 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs1564009755
rs1564009755
PTCH1
1 1.000 0.160 9 95449902 frameshift variant C/- delins 0.700 0
dbSNP: rs1060502264
rs1060502264
PTCH1
1 1.000 0.160 9 95449930 frameshift variant C/- del 0.700 0
dbSNP: rs863224443
rs863224443
PTCH1
1 1.000 0.160 9 95449942 splice acceptor variant T/C snv 0.700 1.000 3 2005 2006
dbSNP: rs863224442
rs863224442
PTCH1
1 1.000 0.160 9 95453477 splice donor variant C/T snv 0.700 0
dbSNP: rs1554690411
rs1554690411
PTCH1
1 1.000 0.160 9 95453498 frameshift variant GA/- delins 0.700 0
dbSNP: rs878853856
rs878853856
PTCH1
1 1.000 0.160 9 95453533 missense variant A/G snv 0.800 1.000 8 1996 2015
dbSNP: rs1060502273
rs1060502273
PTCH1
2 1.000 0.160 9 95453562 frameshift variant AT/- del 0.700 0
dbSNP: rs587776689
rs587776689
PTCH1
3 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 1.000 5 1996 2004