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: rs587778806
rs587778806
SHH
2 0.925 0.120 7 155803581 missense variant G/T snv 0.700 1.000 12 1996 2009
dbSNP: rs104894044
rs104894044
SHH
2 0.925 0.120 7 155811825 stop gained G/A snv 0.700 0
dbSNP: rs104894045
rs104894045
SHH
2 0.925 0.120 7 155806545 stop gained T/A snv 0.700 0
dbSNP: rs104894046
rs104894046
SHH
2 0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05 0.700 0
dbSNP: rs104894051
rs104894051
SHH
2 0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05 0.700 0
dbSNP: rs104894053
rs104894053
SHH
2 0.925 0.160 7 155806475 stop gained C/T snv 0.700 0
dbSNP: rs121917879
rs121917879
SIX3 ; SIX3-AS1
2 0.925 0.120 2 44942874 missense variant G/C snv 0.700 0
dbSNP: rs121917880
rs121917880
SIX3 ; SIX3-AS1
2 0.925 0.120 2 44942853 missense variant T/C snv 0.700 0
dbSNP: rs28936675
rs28936675
SHH
2 0.925 0.120 7 155812032 missense variant C/T snv 0.700 0
dbSNP: rs397515375
rs397515375
SHH
2 0.925 0.120 7 155803481 inframe deletion GCGGCGGTGAGCAGCAGGCGC/- delins 0.700 0
dbSNP: rs397515376
rs397515376
SHH
2 0.925 0.120 7 155803149 inframe deletion GCGCGAAGG/- delins 0.700 0
dbSNP: rs104894040
rs104894040
SHH
4 0.882 0.160 7 155806509 missense variant A/C;G snv 0.800 1.000 12 1996 2009