Source: CLINVAR

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: rs118091316
rs118091316
CYP4F22
1.000 0.080 19 15525513 missense variant C/G;T snv 4.0E-06; 8.4E-03
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.800 1.000 1 2006 2006
dbSNP: rs118203935
rs118203935
CYP4F22
1.000 0.080 19 15549170 missense variant C/T snv 5.6E-05 7.7E-05
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.800 1.000 1 2006 2006
dbSNP: rs118203936
rs118203936
CYP4F22
1.000 0.080 19 15549173 missense variant C/G snv 4.0E-06
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.800 1.000 1 2006 2006
dbSNP: rs118203937
rs118203937
CYP4F22
0.882 0.080 19 15540506 missense variant G/A;T snv 3.6E-05; 4.0E-06
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.800 1.000 1 2006 2006
dbSNP: rs201129618
rs201129618
CYP4F22
1.000 0.080 19 15544257 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.800 1.000 1 2006 2015
dbSNP: rs745368359
rs745368359
CYP4F22
1.000 0.080 19 15544227 stop gained C/G;T snv 2.0E-05 7.0E-06
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 2 2016 2018
dbSNP: rs1159994392
rs1159994392
CYP4F22
1.000 0.080 19 15540690 missense variant C/A;T snv 4.0E-06
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1167473603
rs1167473603
CYP4F22
1.000 0.080 19 15551407 missense variant A/G snv 4.4E-06
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1360295659
rs1360295659
CYP4F22
1.000 0.080 19 15551438 stop gained G/A snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2008 2008
dbSNP: rs1382435790
rs1382435790
CYP4F22
1.000 0.080 19 15537539 frameshift variant -/G delins
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2013 2013
dbSNP: rs144961059
rs144961059
CYP4F22
1.000 0.080 19 15550690 missense variant G/A;C snv 1.5E-04
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568357749
rs1568357749
CYP4F22
1.000 0.080 19 15529854 splice donor variant G/A snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2016 2016
dbSNP: rs1568360348
rs1568360348
CYP4F22
1.000 0.080 19 15537606 missense variant TTTGACA/CTTGATT mnv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568360387
rs1568360387
CYP4F22
1.000 0.080 19 15537667 splice region variant G/C snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2017 2017
dbSNP: rs1568360475
rs1568360475
CYP4F22
1.000 0.080 19 15537870 splice acceptor variant A/T snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568360526
rs1568360526
CYP4F22
1.000 0.080 19 15537914 missense variant G/T snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568360554
rs1568360554
CYP4F22
1.000 0.080 19 15537962 frameshift variant GT/- delins
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568361250
rs1568361250
CYP4F22
1.000 0.080 19 15540475 missense variant A/C snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568362605
rs1568362605
CYP4F22
1.000 0.080 19 15543970 splice acceptor variant G/A snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568362644
rs1568362644
CYP4F22
1.000 0.080 19 15544011 frameshift variant C/- delins
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2006 2006
dbSNP: rs1568364101
rs1568364101
CYP4F22
1.000 0.080 19 15548090 splice region variant TATCTCCATTCTCCC/- del
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568364107
rs1568364107
CYP4F22
1.000 0.080 19 15548107 splice region variant G/- delins
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2013 2013
dbSNP: rs1568364117
rs1568364117
CYP4F22
1.000 0.080 19 15548134 missense variant C/A snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs1568365205
rs1568365205
CYP4F22
1.000 0.080 19 15551363 missense variant C/G snv
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018
dbSNP: rs200581968
rs200581968
CYP4F22
1.000 0.080 19 15550689 missense variant C/A;T snv 1.2E-05; 4.0E-06
CUI: C1858133
Disease: Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive 		0.700 1.000 1 2018 2018