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: rs121909112
rs121909112
HSPB1
7 0.882 0.080 7 76303855 missense variant C/G snv 0.800 1.000 11 2004 2017
dbSNP: rs121909113
rs121909113
HSPB1
3 0.925 0.040 7 76303007 missense variant C/A snv 0.800 1.000 11 2004 2017
dbSNP: rs28937568
rs28937568
HSPB1
2 0.925 0.080 7 76304007 missense variant C/G;T snv 0.800 1.000 11 2004 2017
dbSNP: rs28937569
rs28937569
HSPB1
3 1.000 0.040 7 76304100 missense variant C/T snv 0.800 1.000 11 2004 2017
dbSNP: rs28939680
rs28939680
HSPB1
4 0.925 0.080 7 76303841 missense variant C/A;G;T snv 0.800 1.000 11 2004 2017
dbSNP: rs29001571
rs29001571
HSPB1
4 0.851 0.080 7 76303816 missense variant C/A;T snv 8.0E-06 0.800 1.000 11 2004 2017
dbSNP: rs375244209
rs375244209
HSPB1
2 1.000 0.040 7 76302870 missense variant G/A snv 1.1E-05 0.800 0
dbSNP: rs558882005
rs558882005
HSPB1
1 1.000 0.040 7 76303820 missense variant A/G snv 4.8E-05 2.9E-05 0.800 0
dbSNP: rs774585320
rs774585320
HSPB1
1 1.000 0.040 7 76304115 stop gained C/A;G;T snv 1.2E-05; 4.1E-06; 4.1E-06 0.800 0
dbSNP: rs1393404971
rs1393404971
HSPB1
2 1.000 0.040 7 76302833 missense variant G/A;C snv 0.700 1.000 11 2004 2017
dbSNP: rs557327165
rs557327165
HSPB1
3 0.925 0.080 7 76302828 missense variant C/G;T snv 4.4E-06 0.700 1.000 11 2004 2017
dbSNP: rs104894020
rs104894020
HSPB1
3 0.882 0.080 7 76304099 missense variant C/T snv 0.700 0
dbSNP: rs1064796370
rs1064796370
HSPB1
1 1.000 0.040 7 76302886 frameshift variant -/C delins 2.1E-05 0.700 0
dbSNP: rs1554614648
rs1554614648
HSPB1
1 1.000 0.040 7 76303852 missense variant A/G snv 0.700 0
dbSNP: rs1563651698
rs1563651698
HSPB1
1 1.000 0.040 7 76302731 missense variant C/T snv 0.700 0
dbSNP: rs770272088
rs770272088
HSPB1
4 0.882 0.080 7 76302962 missense variant G/A;C;T snv 6.8E-06 0.700 0
dbSNP: rs863225022
rs863225022
HSPB1
3 0.882 0.080 7 76303844 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0