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: rs397518475
rs397518475 		1.000 6 131851241 missense variant G/A snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs397518476
rs397518476 		1.000 6 131851202 missense variant G/C snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs397518477
rs397518477 		1.000 6 131851157 missense variant G/C snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs62424521
rs62424521 		6 131878279 intron variant C/T snv 2.0E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs956488367
rs956488367 		1.000 6 131850037 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3809781
Disease: Cole disease
Cole disease 		0.010 1.000 1 2018 2018
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs858339
rs858339 		1.000 0.120 6 131832757 intron variant T/A snv 0.30
CUI: C3494419
Disease: Dentofacial Deformities
Dentofacial Deformities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121908248
rs121908248 		0.925 0.200 6 131860388 missense variant G/C;T snv
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 1.000 3 2010 2015
dbSNP: rs121908249
rs121908249 		1.000 0.200 6 131890435 missense variant A/C;G snv 4.0E-06
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.800 1.000 3 2010 2015
dbSNP: rs370184526
rs370184526 		0.925 0.200 6 131884994 missense variant A/G snv 7.6E-05 6.3E-05
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 1.000 3 2010 2015
dbSNP: rs1554278331
rs1554278331 		1.000 0.200 6 131850106 splice donor variant G/- delins
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs373044722
rs373044722 		0.925 0.200 6 131872926 missense variant C/T snv 8.0E-06
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs587776797
rs587776797 		1.000 0.200 6 131883709 frameshift variant -/A delins
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs763922486
rs763922486 		0.925 0.200 6 131849999 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1044548
rs1044548 		1.000 0.080 6 131890623 3 prime UTR variant G/A snv 0.12
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11964389
rs11964389 		1.000 0.080 6 131890632 3 prime UTR variant G/A;C;T snv
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1799774
rs1799774 		0.882 0.200 6 131882331 intron variant T/- delins
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7754561
rs7754561 		0.882 0.200 6 131891554 3 prime UTR variant A/G snv 0.44
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7773477
rs7773477 		1.000 0.160 6 131847857 intron variant G/A;T snv 1.8E-05; 5.3E-02; 1.9E-04 0.11
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011