Source: ALL
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: rs28940268
rs28940268 		1.000 0.080 2 214986563 missense variant C/T snv
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 2003 2012
dbSNP: rs28940269
rs28940269 		0.925 0.080 2 214986566 missense variant T/C snv 4.8E-05 4.2E-05
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 2003 2012
dbSNP: rs28940270
rs28940270 		1.000 0.080 2 214982225 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 2003 2012
dbSNP: rs28940271
rs28940271 		1.000 0.080 2 214980608 missense variant C/T snv
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 2003 2012
dbSNP: rs28940568
rs28940568 		1.000 0.080 2 214978830 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 2003 2012
dbSNP: rs1295935868
rs1295935868 		1.000 0.080 2 215031849 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 2003 2012
dbSNP: rs1457513156
rs1457513156 		1.000 0.080 2 214980547 missense variant C/A snv 4.0E-06
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 2003 2012
dbSNP: rs763858530
rs763858530 		1.000 0.080 2 214959024 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 2003 2012
dbSNP: rs746315995
rs746315995 		1.000 0.080 2 215026840 missense variant C/T snv 1.2E-05
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2006 2006
dbSNP: rs1131692156
rs1131692156 		1.000 0.080 2 214959020 splice region variant T/C snv
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs11891778
rs11891778 		0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs11891778
rs11891778 		0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03
CUI: C3550430
Disease: Eclabion
Eclabion 		0.700 0
dbSNP: rs11891778
rs11891778 		0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs11891778
rs11891778 		0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03
CUI: C0013592
Disease: Ectropion
Ectropion 		Eye Diseases 0.700 0
dbSNP: rs11891778
rs11891778 		0.882 0.120 2 215045850 stop gained G/A;C;T snv 4.0E-06; 9.2E-03
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1263698595
rs1263698595 		1.000 0.080 2 214982285 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137853289
rs137853289 		1.000 0.080 2 214953891 stop gained G/A;T snv
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553520468
rs1553520468 		0.925 0.080 2 214955362 splice acceptor variant C/G snv
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553520468
rs1553520468 		0.925 0.080 2 214955362 splice acceptor variant C/G snv
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1559120651
rs1559120651 		1.000 0.080 2 214968754 frameshift variant -/T delins
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1559134341
rs1559134341 		1.000 0.080 2 214990880 missense variant A/G snv
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs181314573
rs181314573 		1.000 0.080 2 214974853 missense variant G/A snv 1.6E-04 7.0E-05
CUI: C1832550
Disease: Lamellar ichthyosis, type 2
Lamellar ichthyosis, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs199503269
rs199503269 		1.000 0.080 2 214937608 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs267606622
rs267606622 		1.000 0.080 2 214990791 missense variant C/T snv
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs28940269
rs28940269 		0.925 0.080 2 214986566 missense variant T/C snv 4.8E-05 4.2E-05
CUI: C0598226
Disease: Harlequin type ichthyosis
Harlequin type ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0