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: rs13135934
rs13135934 		4 94286537 intron variant G/C snv 0.37
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs1057519613
rs1057519613 		1.000 0.120 4 94253672 splice donor variant G/A;T snv
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057519613
rs1057519613 		1.000 0.120 4 94253672 splice donor variant G/A;T snv
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1114167276
rs1114167276 		1.000 0.080 4 94253673 splice donor variant T/C snv
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1114167276
rs1114167276 		1.000 0.080 4 94253673 splice donor variant T/C snv
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1114167277
rs1114167277 		4 94253676 splice region variant G/C snv
CUI: C1852150
Disease: Fingerprints, Absence of
Fingerprints, Absence of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560542180
rs1560542180 		1.000 0.080 4 94253656 splice donor variant GAAGGCATAAGCACTGGT/- del
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1560542214
rs1560542214 		1.000 0.080 4 94253672 splice donor variant -/T delins
CUI: C0406767
Disease: Keratoderma with scleroatrophy of the extremities
Keratoderma with scleroatrophy of the extremities 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs895436485
rs895436485 		1.000 0.120 4 94253674 splice region variant A/G;T snv
CUI: C0406707
Disease: Basan syndrome
Basan syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0