Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs58852768
rs58852768
0.882 0.080 17 40822120 missense variant G/A;C;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.830 1.000 9 1992 2015
dbSNP: rs58901407
rs58901407
1.000 0.080 17 40822137 missense variant A/C;G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.820 1.000 9 1992 2011
dbSNP: rs58075662
rs58075662
0.925 0.120 17 40822119 missense variant C/A;G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.820 1.000 0 2000 2012
dbSNP: rs57695159
rs57695159
1.000 0.080 12 52679867 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 1.000 12 1992 2011
dbSNP: rs57784225
rs57784225
1.000 0.080 17 40822126 missense variant T/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 1.000 9 1992 2011
dbSNP: rs58414354
rs58414354
1.000 0.080 17 40822108 missense variant A/C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 1.000 9 1992 2011
dbSNP: rs61434181
rs61434181
1.000 0.080 17 40819575 stop gained T/A;C snv 4.0E-06
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 1.000 9 1992 2011
dbSNP: rs57959072
rs57959072
1.000 0.080 12 52679885 missense variant A/C;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs58026994
rs58026994
1.000 0.080 17 40819565 missense variant A/T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs58420087
rs58420087
1.000 0.080 12 52676305 missense variant T/C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs59429455
rs59429455
1.000 0.080 12 52679785 missense variant G/T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs60118264
rs60118264
1.000 0.080 17 40822104 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.800 0
dbSNP: rs57837128
rs57837128
0.882 0.120 12 52676314 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.710 1.000 12 1992 2012
dbSNP: rs267607430
rs267607430
1.000 0.080 12 52676296 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs58062863
rs58062863
1.000 0.080 12 52677425 missense variant T/A;C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs58928370
rs58928370
1.000 0.080 12 52679786 missense variant T/C;G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs59089201
rs59089201
1.000 0.080 12 52676318 missense variant C/G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 12 1992 2011
dbSNP: rs267607383
rs267607383
1.000 0.080 17 40819544 missense variant T/C snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 1.000 9 1992 2011
dbSNP: rs56914602
rs56914602
1.000 0.080 12 52676293 missense variant A/C;G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs58735429
rs58735429
1.000 0.080 17 40822107 missense variant T/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs60022878
rs60022878
1.000 0.080 12 52679793 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs60279707
rs60279707
1.000 0.080 12 52676282 missense variant C/G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs60937700
rs60937700
1.000 0.080 12 52679772 missense variant A/G;T snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0
dbSNP: rs61549035
rs61549035
1.000 0.080 12 52678707 missense variant A/G snv
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic
0.700 0