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: 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
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: 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: 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: rs104894050
rs104894050
SHH
2 0.925 0.120 7 155811860 missense variant T/A snv 0.800 1.000 12 1996 2009
dbSNP: rs267607047
rs267607047
SHH
2 0.925 0.120 7 155806513 missense variant G/A;T snv 4.0E-06 0.800 1.000 12 1996 2009