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: rs1554493607
rs1554493607
SHH
1 1.000 0.120 7 155802982 stop gained G/T snv 0.700 0
dbSNP: rs1057518660
rs1057518660
SHH
1 1.000 0.120 7 155803005 frameshift variant G/- delins 0.700 0
dbSNP: rs104894048
rs104894048
SHH
2 0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05 0.800 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: rs137853341
rs137853341
SHH
1 1.000 0.120 7 155803142 missense variant C/T snv 1.4E-05 1.4E-05 0.700 1.000 12 1996 2009
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
dbSNP: rs104894052
rs104894052
SHH
2 0.925 0.160 7 155803294 missense variant A/G snv 0.700 1.000 12 1996 2009
dbSNP: rs955894039
rs955894039
SHH
1 1.000 0.120 7 155803402 missense variant C/G snv 1.4E-05 0.700 0
dbSNP: rs1554493810
rs1554493810
SHH
1 1.000 0.120 7 155803416 frameshift variant GAGCCCGAGGACGCCTCGGGCTC/- delins 0.700 0
dbSNP: rs104894047
rs104894047
SHH
1 1.000 0.120 7 155803420 missense variant C/T snv 3.3E-03 2.0E-03 0.700 1.000 12 1996 2009
dbSNP: rs104894046
rs104894046
SHH
2 0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05 0.700 0
dbSNP: rs556192490
rs556192490
SHH
1 1.000 0.120 7 155803465 missense variant G/A;T snv 1.3E-05; 8.5E-05 0.700 1.000 12 1996 2009
dbSNP: rs397515375
rs397515375
SHH
2 0.925 0.120 7 155803481 inframe deletion GCGGCGGTGAGCAGCAGGCGC/- delins 0.700 0
dbSNP: rs1420292012
rs1420292012
SHH
1 1.000 0.120 7 155803493 missense variant G/A;T snv 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: rs587778806
rs587778806
SHH
2 0.925 0.120 7 155803581 missense variant G/T snv 0.700 1.000 12 1996 2009
dbSNP: rs1347054935
rs1347054935
SHH
1 1.000 0.120 7 155803595 missense variant G/C snv 8.8E-06 1.4E-05 0.700 0
dbSNP: rs104894043
rs104894043
SHH
2 0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05 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: 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: rs752650571
rs752650571
SHH
1 1.000 0.120 7 155803702 missense variant C/T snv 4.4E-06 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: rs1554494372
rs1554494372
SHH
1 1.000 0.120 7 155806390 missense variant G/T snv 0.700 1.000 12 1996 2009
dbSNP: rs104894053
rs104894053
SHH
2 0.925 0.160 7 155806475 stop gained C/T snv 0.700 0