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: rs121913679
rs121913679
1.000 0.120 4 54728121 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs121913680
rs121913680
0.925 0.200 4 54727515 missense variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs121913687
rs121913687
1.000 0.120 4 54736552 missense variant A/C snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs28933371
rs28933371
1.000 0.120 4 54727519 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 1.000 8 1991 2000
dbSNP: rs794726671
rs794726671
1.000 0.120 4 54727520 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs121913684
rs121913684
0.925 0.120 4 54733094 missense variant A/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 8 1991 2000
dbSNP: rs1560419312
rs1560419312
1.000 0.120 4 54729344 missense variant T/G snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726672
rs794726672
1.000 0.120 4 54728055 frameshift variant AA/- delins
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726673
rs794726673
1.000 0.120 4 54727448 frameshift variant -/G delins
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726674
rs794726674
1.000 0.120 4 54695696 frameshift variant G/- delins
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs794726675
rs794726675
1.000 0.120 4 54727928 splice donor variant G/A snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387907217
rs387907217
0.882 0.120 4 54727907 missense variant T/C snv
CUI: C0080024
Disease: Piebaldism
Piebaldism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.030 1.000 3 2001 2006