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: rs104894040
rs104894040
SHH
4 0.882 0.160 7 155806509 missense variant A/C;G snv 0.800 1.000 12 1996 2009
dbSNP: rs104894042
rs104894042
SHH
2 0.925 0.120 7 155803618 missense variant A/T snv 0.800 1.000 12 1996 2009
dbSNP: rs104894050
rs104894050
SHH
2 0.925 0.120 7 155811860 missense variant T/A snv 0.800 1.000 12 1996 2009
dbSNP: rs104894052
rs104894052
SHH
2 0.925 0.160 7 155803294 missense variant A/G snv 0.700 1.000 12 1996 2009
dbSNP: rs1412744230
rs1412744230
SHH
1 1.000 0.120 7 155803043 missense variant T/C snv 0.700 1.000 12 1996 2009
dbSNP: rs1428916820
rs1428916820
SHH
1 1.000 0.120 7 155812007 missense variant A/G snv 0.700 1.000 12 1996 2009
dbSNP: rs1554494372
rs1554494372
SHH
1 1.000 0.120 7 155806390 missense variant G/T snv 0.700 1.000 12 1996 2009
dbSNP: rs587778792
rs587778792
SHH
2 0.925 0.120 7 155811823 missense variant C/G snv 0.700 1.000 12 1996 2009
dbSNP: rs587778799
rs587778799
SHH
2 0.925 0.120 7 155806296 missense variant C/G snv 0.700 1.000 12 1996 2009
dbSNP: rs587778805
rs587778805
SHH
2 0.925 0.120 7 155803625 missense variant C/T snv 7.0E-06 0.700 1.000 12 1996 2009
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: rs104894053
rs104894053
SHH
2 0.925 0.160 7 155806475 stop gained C/T snv 0.700 0
dbSNP: rs1057518660
rs1057518660
SHH
1 1.000 0.120 7 155803005 frameshift variant G/- delins 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: rs1420292012
rs1420292012
SHH
1 1.000 0.120 7 155803493 missense variant G/A;T snv 0.700 0
dbSNP: rs1554493607
rs1554493607
SHH
1 1.000 0.120 7 155802982 stop gained G/T snv 0.700 0
dbSNP: rs1554493810
rs1554493810
SHH
1 1.000 0.120 7 155803416 frameshift variant GAGCCCGAGGACGCCTCGGGCTC/- delins 0.700 0
dbSNP: rs1554495331
rs1554495331
SHH
1 1.000 0.120 7 155811980 frameshift variant A/- del 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: rs886042458
rs886042458
SHH
1 1.000 0.120 7 155803249 missense variant G/A;C snv 0.700 0