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: rs121917852
rs121917852
IHH ; MIR3131
1 1.000 0.080 2 219060185 missense variant C/T snv 0.810 1.000 4 2001 2019
dbSNP: rs121917853
rs121917853
IHH
1 1.000 0.080 2 219057619 missense variant C/T snv 0.800 1.000 3 2001 2011
dbSNP: rs121917854
rs121917854
IHH ; MIR3131
1 1.000 0.080 2 219060168 missense variant G/T snv 0.800 1.000 3 2001 2011
dbSNP: rs121917855
rs121917855
IHH ; MIR3131
1 1.000 0.080 2 219060170 missense variant C/T snv 0.800 1.000 3 2001 2011
dbSNP: rs121917859
rs121917859
IHH ; MIR3131
1 1.000 0.080 2 219060184 missense variant T/C snv 0.700 0
dbSNP: rs121917861
rs121917861
IHH
1 1.000 0.080 2 219057549 missense variant G/A snv 0.700 0
dbSNP: rs267606872
rs267606872
IHH
1 1.000 0.080 2 219057621 missense variant G/T snv 0.700 0
dbSNP: rs267606873
rs267606873
IHH
1 1.000 0.080 2 219057627 missense variant C/T snv 0.700 0
dbSNP: rs1329735599
rs1329735599
BMPR1A
1 1.000 0.080 10 86923504 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1376766191
rs1376766191
SSTR4
1 1.000 0.080 20 23035763 stop gained G/A;T snv 4.3E-06; 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs369404558
rs369404558
GLI1
1 1.000 0.080 12 57465827 missense variant G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs397514519
rs397514519
GDF5 ; GDF5-AS1
2 0.925 0.080 20 35434220 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs532713234
rs532713234
PTCH1
1 1.000 0.080 9 95506515 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs74315389
rs74315389
GDF5 ; GDF5-AS1
2 0.925 0.080 20 35433944 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs771470596
rs771470596
EDNRA
4 0.882 0.200 4 147539919 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2019 2019