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: rs121917880
rs121917880
2 0.925 0.120 2 44942853 missense variant T/C snv 0.700 0
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: 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: rs779093031
rs779093031
SHH
1 1.000 0.120 7 155811909 stop gained G/A;T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs886042458
rs886042458
SHH
1 1.000 0.120 7 155803249 missense variant G/A;C snv 0.700 0
dbSNP: rs955894039
rs955894039
SHH
1 1.000 0.120 7 155803402 missense variant C/G snv 1.4E-05 0.700 0