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: rs530109812
rs530109812 		1.000 12 56934048 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.800 1.000 1 2016 2016
dbSNP: rs770729222
rs770729222 		1.000 12 56929515 missense variant A/G snv 1.6E-05 2.8E-05
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.800 1.000 1 2016 2016
dbSNP: rs189441863
rs189441863 		1.000 0.080 12 56927621 intron variant G/A snv 2.5E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2018 2018
dbSNP: rs58267004
rs58267004 		12 56928957 intron variant A/C;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7296999
rs7296999 		1.000 0.040 12 56927428 intron variant C/T snv 9.2E-02
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2012 2012
dbSNP: rs538068583
rs538068583 		1.000 0.080 12 56930431 missense variant C/G;T snv 4.0E-06; 4.0E-06 7.0E-06
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs760309815
rs760309815 		1.000 12 56930421 frameshift variant -/T delins 4.0E-05 7.0E-06
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.700 0
dbSNP: rs764593071
rs764593071 		1.000 0.080 12 56934150 missense variant C/G;T snv 5.6E-05
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs774363396
rs774363396 		0.925 0.080 12 56929456 stop gained G/A snv 2.0E-05
CUI: C0020758
Disease: Congenital ichthyosis
Congenital ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs774363396
rs774363396 		0.925 0.080 12 56929456 stop gained G/A snv 2.0E-05
CUI: C4539772
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 		0.700 0