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
RS2058974109 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer
RS2058975287 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS2058978377 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2058978388 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2058986184 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2058986411 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2058989559 AGXT Health Risk Likely pathogenic —
RS2058990168 AGXT Health Risk Likely pathogenic —
RS2059009080 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS2059009305 NEDD4L Health Risk Conflicting classifications of pathogenicity NEDD4L-related disorder, Inborn genetic diseases
RS2059018297 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2059020261 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2059021664 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059021939 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2059037657 AGXT Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type I
RS2059045469 ALG5 Health Risk Likely pathogenic Polycystic kidney disease 7, Polycystic kidney disease 7
RS2059047548 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059047949 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2059050320 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2059050708 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059051273 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059058650 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2059067761 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS2059069232 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2059069286 CACNA1A Health Risk Pathogenic Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy
RS2059089321 EP300 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059103511 EP300 Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS2059119564 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2059120434 RAF1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS2059121113 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2059122469 COL4A4 Health Risk Pathogenic —
RS2059125367 TCF12 Health Risk Pathogenic —
RS2059127438 ERBB2 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2059129170 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive Alport syndrome
RS2059152743 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059153923 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059154269 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059164609 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2059164764 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2059175292 TCF12 Health Risk Pathogenic/Likely pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2059176610 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059176668 EP300 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2059177123 EP300 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059190701 CACNA1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 42
RS2059190992 CACNA1A Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2059194330 NEDD4L Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia 7, Intellectual disability
RS2059200372 EP300 Health Risk Pathogenic —
RS2059209950 EP300 Health Risk Pathogenic —
RS2059210417 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2059211409 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2059213874 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2059215587 EP300 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059219404 EP300 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059220495 EP300 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059220693 EP300 Health Risk Likely pathogenic Menke-Hennekam syndrome 2, Menke-Hennekam syndrome 2
RS2059231880 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2059233076 NPC1 Health Risk Pathogenic Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS2059233326 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2059233403 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2059270260 FRA10AC1 Health Risk Pathogenic —
RS2059358378 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2059360185 COL4A4 Health Risk Likely pathogenic Nephrotic syndrome, Alport syndrome
RS2059384530 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2059397603 BPTF Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2059439923 DIP2A Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2059495906 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2059501959 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2059557090 RTTN Health Risk Likely pathogenic —
RS2059583625 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2059586444 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2059592140 SSX1 Health Risk Pathogenic Spermatogenic failure, X-linked
RS2059593242 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2059635206 GSN Health Risk Likely pathogenic Finnish type amyloidosis, Finnish type amyloidosis
RS2059639706 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2059642653 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2059643357 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2059646164 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2059661877 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS2059685666 EML1 Health Risk Pathogenic —
RS2059695805 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2059701389 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2059702093 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2059709974 TRPM7 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2059723813 NEDD4L Health Risk Likely pathogenic Periventricular nodular heterotopia 7, Periventricular nodular heterotopia 7
RS2059726758 NEDD4L Health Risk Conflicting classifications of pathogenicity —
RS2059732940 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS2059732983 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS2059733367 COL4A4 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2059734968 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2059821994 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2059823776 COL4A4 Health Risk Likely pathogenic —
RS2059860543 ERBB2 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2059889716 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2059899625 RTTN Health Risk Pathogenic —
RS2059913524 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2059916812 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
RS2059934937 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2059951179 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS2059955751 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2059956960 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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