CYP1B1-AS1, CYP1B1 antisense RNA 1, 285154

N. diseases: 12; N. variants: 43
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: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 23 1998 2012
dbSNP: rs104893628
rs104893628 		1.000 0.040 2 38074695 missense variant C/G snv 7.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs28936700
rs28936700 		0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.800 1.000 20 1998 2008
dbSNP: rs1426636145
rs1426636145 		1.000 0.040 2 38074781 missense variant T/C snv 2.4E-05 7.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs529769268
rs529769268 		1.000 0.040 2 38074811 missense variant G/A;C snv 1.2E-04; 5.7E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549382
rs72549382 		1.000 0.040 2 38074431 missense variant C/A;G;T snv 3.1E-04; 4.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549384
rs72549384 		1.000 0.040 2 38074745 missense variant C/A;G snv 1.5E-04; 4.9E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs764338357
rs764338357 		1.000 0.040 2 38075046 missense variant C/G;T snv 1.0E-05; 5.0E-06
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 20 1998 2008
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		Eye Diseases 0.700 1.000 8 2001 2016
dbSNP: rs771076928
rs771076928 		1.000 0.040 2 38074854 frameshift variant C/- delins 4.9E-05
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		Eye Diseases 0.700 1.000 6 2002 2016
dbSNP: rs587778875
rs587778875 		1.000 0.040 2 38074520 frameshift variant -/G delins 2.6E-05 3.5E-05
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		Eye Diseases 0.700 1.000 4 1997 2015
dbSNP: rs766425037
rs766425037 		1.000 0.040 2 38074559 frameshift variant A/- delins 2.9E-05 1.4E-05
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		Eye Diseases 0.700 1.000 2 2007 2009
dbSNP: rs777678299
rs777678299 		1.000 0.040 2 38074404 missense variant C/T snv 1.2E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 1.000 2 2011 2016
dbSNP: rs162332
rs162332 		2 38095219 non coding transcript exon variant A/G snv 0.53
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2855655
rs2855655 		2 38077346 intron variant T/C snv 0.55
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813 		0.882 0.080 2 38090568 intron variant G/A snv 0.40
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813 		0.882 0.080 2 38090568 intron variant G/A snv 0.40
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4670813
rs4670813 		0.882 0.080 2 38090568 intron variant G/A snv 0.40
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1558603396
rs1558603396 		1.000 0.040 2 38074606 missense variant G/T snv
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 0
dbSNP: rs28936700
rs28936700 		0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 6 		0.700 0
dbSNP: rs28936700
rs28936700 		0.776 0.120 2 38075207 missense variant C/G;T snv 5.0E-06; 3.2E-04
CUI: C1832977
Disease: GLAUCOMA 3, PRIMARY INFANTILE, B
GLAUCOMA 3, PRIMARY INFANTILE, B 		Eye Diseases 0.700 0
dbSNP: rs57865060
rs57865060 		0.827 0.160 2 38074704 missense variant C/T snv 1.1E-02 5.7E-03
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 0
dbSNP: rs59472972
rs59472972 		1.000 0.040 2 38074797 missense variant C/T snv 2.8E-04 9.1E-05
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 0
dbSNP: rs66583685
rs66583685 		1.000 0.040 2 38074356 missense variant G/A;C snv 1.2E-04
CUI: C1856439
Disease: GLAUCOMA 3, PRIMARY CONGENITAL, A
GLAUCOMA 3, PRIMARY CONGENITAL, A 		Eye Diseases 0.700 0
dbSNP: rs72549387
rs72549387 		0.790 0.120 2 38075218 stop gained C/G;T snv 1.7E-04
CUI: C4310623
Disease: ANTERIOR SEGMENT DYSGENESIS 6
ANTERIOR SEGMENT DYSGENESIS 6 		0.700 0