SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2058363627 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2058363821 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058367842 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058372554 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2058376262 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058376454 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058377004 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2058387066 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058388882 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS2058399145 PDE6C Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2058407169 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058407754 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2058421657 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058422018 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS2058423391 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS2058440863 PDE6C Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2058478213 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2058500850 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2058524059 PDE6C Health Risk Pathogenic —
RS2058524276 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS2058536729 PDE6C Health Risk Pathogenic —
RS2058551505 PDE6C Health Risk Pathogenic —
RS2058553788 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS2058556589 CACNA1A Health Risk Pathogenic CACNA1A-related disorder, CACNA1A-related disorder
RS2058566495 DNAAF4 Health Risk Pathogenic —
RS2058569546 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058572084 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058572301 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058572854 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058573264 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2058574038 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058584112 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2058596487 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2058596611 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058604823 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS2058605108 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2058610123 LAMP2 Health Risk Pathogenic —
RS2058614971 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058616184 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058616798 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058637844 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2058651832 SPG7 Health Risk Pathogenic —
RS2058653940 PDE6C Health Risk Pathogenic —
RS2058661391 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058661636 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058665849 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058666849 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2058667949 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2058668062 DNAAF4 Health Risk Likely pathogenic Dyslexia, susceptibility to
RS2058673701 PDE6C Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2058678962 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058679233 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058685029 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058687419 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058688995 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058690179 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058697907 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058698544 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058698654 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058707982 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058711607 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058711926 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C
RS2058712401 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058712732 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS2058737403 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS2058753286 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058753352 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058753693 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058754064 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058754429 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2058756032 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058757423 RPL13 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
RS2058768195 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058768417 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058768795 NPC1 Health Risk Likely pathogenic —
RS2058769608 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058786429 SHANK2 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2058800704 SHANK2 Health Risk Likely pathogenic —
RS2058802102 IMPG2 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2058802149 IMPG2 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS2058802159 IMPG2 Health Risk Pathogenic —
RS2058813191 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058824189 ERBB2 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2058827886 SHANK2 Health Risk Likely pathogenic —
RS2058829252 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2058861849 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2058865334 TTN Health Risk Likely pathogenic Congenital titinopathy, Congenital titinopathy
RS2058867660 SHANK2 Health Risk Conflicting classifications of pathogenicity Autism, susceptibility to
RS2058879988 EP300 Health Risk Pathogenic Colorectal carcinoma, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2058899044 SHANK2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Autism
RS2058902255 SHANK2 Health Risk Pathogenic —
RS2058919680 EP300 Health Risk Pathogenic Microcephaly, Microcephaly
RS2058926540 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058928573 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058929021 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058949363 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS2058949697 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2058951328 RAF1 Health Risk Likely pathogenic Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS2058953311 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2058961860 STAG2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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