Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912734
rs121912734
0.925 0.120 12 110339638 missense variant T/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 7 1999 2017
dbSNP: rs121912738
rs121912738
1.000 0.080 12 110296666 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1999 2017
dbSNP: rs28929478
rs28929478
1.000 0.080 12 110281857 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs121912732
rs121912732
0.925 0.080 12 110342430 missense variant A/G snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1999 2017
dbSNP: rs121912733
rs121912733
0.925 0.080 12 110327725 missense variant G/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1999 2017
dbSNP: rs121912736
rs121912736
0.925 0.080 12 110342435 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1999 2017
dbSNP: rs121912731
rs121912731
1.000 0.080 12 110292122 stop gained C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1566240208
rs1566240208
1.000 0.080 12 110342388 inframe deletion ACA/- delins
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912737
rs121912737
0.925 0.080 12 110340702 missense variant C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2017