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: rs955894039
rs955894039
SHH
1 1.000 0.120 7 155803402 missense variant C/G snv 1.4E-05 0.700 0
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
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: 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: 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: 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: rs104894051
rs104894051
SHH
2 0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05 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: 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: 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: 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: 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