Disease: Ichthyosis linearis circumflexa ×
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: rs752941297
rs752941297 		0.925 0.080 5 148097875 synonymous variant C/T snv 2.0E-05 4.2E-05
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.720 1.000 3 2012 2015
dbSNP: rs121908387
rs121908387 		1.000 0.080 5 148120063 stop gained C/T snv
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 1 2005 2005
dbSNP: rs1131691490
rs1131691490 		1.000 0.080 5 148065374 splice donor variant T/A snv 8.0E-06 2.1E-05
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2002
dbSNP: rs1561701382
rs1561701382 		1.000 0.080 5 148120137 splice donor variant G/A snv
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2002
dbSNP: rs199757347
rs199757347 		1.000 0.080 5 148091214 stop gained C/G;T snv 3.2E-05; 4.0E-05
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2016
dbSNP: rs1554104853
rs1554104853 		1.000 0.080 5 148104957 frameshift variant A/- delins
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1561680487
rs1561680487 		1.000 0.080 5 148086473 frameshift variant TTGT/- delins
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1561684604
rs1561684604 		1.000 0.080 5 148094373 frameshift variant A/- delins
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1561686960
rs1561686960 		1.000 0.080 5 148097979 frameshift variant T/- del
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1561695740
rs1561695740 		1.000 0.080 5 148111891 splice donor variant TTCTTGTGAGTGGGCGGCAGCCACTG/CT delins
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs368134354
rs368134354 		0.925 0.080 5 148104940 intron variant G/A;C;T snv 3.3E-05; 4.1E-06; 8.3E-06
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs565782662
rs565782662 		1.000 0.080 5 148120312 frameshift variant AAA/-;A;AA;AAAA delins 7.3E-06
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs587777749
rs587777749 		1.000 0.080 5 148086403 splice acceptor variant A/T snv
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs753621591
rs753621591 		1.000 0.080 5 148123851 stop gained C/T snv 1.2E-05
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs761490126
rs761490126 		1.000 0.080 5 148095838 frameshift variant AA/- delins 4.0E-06
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs766978225
rs766978225 		1.000 0.080 5 148131312 stop gained T/A snv 4.0E-06 2.1E-05
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2303067
rs2303067 		0.851 0.160 5 148101392 missense variant A/G snv 0.52 0.44
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs777436361
rs777436361 		1.000 0.080 5 148100472 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs924297783
rs924297783 		1.000 0.080 5 148097984 stop gained C/T snv
CUI: C0265962
Disease: Ichthyosis linearis circumflexa
Ichthyosis linearis circumflexa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011