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: rs121912737
rs121912737 		0.925 0.080 12 110340702 missense variant C/T snv
CUI: C0265971
Disease: Acrokeratosis Verruciformis of Hopf
Acrokeratosis Verruciformis of Hopf 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.830 1.000 3 2003 2017
dbSNP: rs121912734
rs121912734 		0.925 0.120 12 110339638 missense variant T/C snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 7 1999 2017
dbSNP: rs121912738
rs121912738 		1.000 0.080 12 110296666 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 6 1999 2017
dbSNP: rs28929478
rs28929478 		1.000 0.080 12 110281857 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs387906594
rs387906594 		1.000 0.080 12 110340990 missense variant C/T snv
CUI: C0265971
Disease: Acrokeratosis Verruciformis of Hopf
Acrokeratosis Verruciformis of Hopf 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 1 2012 2012
dbSNP: rs121912732
rs121912732 		0.925 0.080 12 110342430 missense variant A/G snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1999 2017
dbSNP: rs121912733
rs121912733 		0.925 0.080 12 110327725 missense variant G/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1999 2017
dbSNP: rs121912736
rs121912736 		0.925 0.080 12 110342435 missense variant G/A snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 6 1999 2017
dbSNP: rs4766428
rs4766428 		1.000 0.040 12 110285440 intron variant C/T snv 0.40
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 6 2014 2019
dbSNP: rs11065633
rs11065633 		12 110348445 3 prime UTR variant C/T snv 2.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11065633
rs11065633 		12 110348445 3 prime UTR variant C/T snv 2.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3026433
rs3026433 		1.000 0.040 12 110281387 5 prime UTR variant C/G snv 0.16
CUI: C0236773
Disease: Depressed bipolar I disorder
Depressed bipolar I disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs3026445
rs3026445 		12 110285398 intron variant T/C snv 0.43
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs3026470
rs3026470 		12 110330422 non coding transcript exon variant G/C snv 2.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4766428
rs4766428 		1.000 0.040 12 110285440 intron variant C/T snv 0.40
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs121912731
rs121912731 		1.000 0.080 12 110292122 stop gained C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912732
rs121912732 		0.925 0.080 12 110342430 missense variant A/G snv
CUI: C1852296
Disease: Darier Disease, Acral Hemorrhagic Type
Darier Disease, Acral Hemorrhagic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912733
rs121912733 		0.925 0.080 12 110327725 missense variant G/T snv
CUI: C1852296
Disease: Darier Disease, Acral Hemorrhagic Type
Darier Disease, Acral Hemorrhagic Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912735
rs121912735 		1.000 0.080 12 110345323 stop gained C/A;T snv 4.0E-06
CUI: C1852297
Disease: Darier Disease, Segmental
Darier Disease, Segmental 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912736
rs121912736 		0.925 0.080 12 110342435 missense variant G/A snv
CUI: C1852297
Disease: Darier Disease, Segmental
Darier Disease, Segmental 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1566240208
rs1566240208 		1.000 0.080 12 110342388 inframe deletion ACA/- delins
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912737
rs121912737 		0.925 0.080 12 110340702 missense variant C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2017
dbSNP: rs121912734
rs121912734 		0.925 0.120 12 110339638 missense variant T/C snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs1860561
rs1860561 		0.851 0.080 12 110345436 intron variant G/A snv 0.19
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1860561
rs1860561 		0.851 0.080 12 110345436 intron variant G/A snv 0.19
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2013 2013