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
RS77834169 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Hereditary pancreatitis
RS778342318 SLC38A8 Health Risk Conflicting classifications of pathogenicity —
RS778343059 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS778344080 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS778344637 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS778345125 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Hematuria
RS778345588 ADAMTSL4 Health Risk Pathogenic —
RS778345761 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778345898 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS778346264 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS778346520 PCARE Health Risk Pathogenic —
RS778347369 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS77834781 RNASEH2C Health Risk Likely pathogenic Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
RS778348776 MTOR Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS778349143 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS778349684 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS778350156 NOTCH3 Health Risk Likely pathogenic —
RS778350289 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS778350547 TTN Health Risk Conflicting classifications of pathogenicity —
RS778351153 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS778352959 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778352969 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS778354178 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS778354350 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS778354646 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS778356275 MAG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS778356642 SMAD3 Health Risk Pathogenic —
RS778357689 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS778357787 RFXANK Health Risk Pathogenic/Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS778359563 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS778359687 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS778360209 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778360818 PLOD2 Health Risk Conflicting classifications of pathogenicity 9 conditions, Bruck syndrome 2
RS778361520 ADGRB2 Health Risk Likely pathogenic Progressive spastic paraparesis, Progressive spastic paraparesis
RS778361747 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS778361949 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS778362196 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778363012 TSHR Health Risk Pathogenic —
RS778363138 DDX11 Health Risk Pathogenic/Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS778363266 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, Severe combined immunodeficiency due to DNA-PKcs deficiency
RS778363575 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Progressive bulbar palsy of childhood
RS778364096 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS778364983 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS778365957 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778366754 TUSC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS778367724 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS778368053 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS778368118 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS778368597 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS778368766 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS778369623 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS778369655 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS778370524 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS778370920 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS778371783 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778372285 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS778373035 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS778373042 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS778374267 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS778375259 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
RS778375586 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS778376925 STK11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS778377449 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS778379327 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Inborn genetic diseases
RS778380128 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS778380938 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS77838108 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, MPDZ-related disorder
RS778381859 TCN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Transcobalamin II deficiency
RS778382252 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS778382364 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS778382794 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis type 15
RS77838305 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Infantile convulsions and choreoathetosis
RS778383770 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS778385612 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS778385849 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS778386295 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, GRIN2A-related complex neurodevelopmental disorder
RS778386729 PKD1 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease
RS778387055 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS778387199 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS778388513 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Neuropathy
RS778389399 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS778389919 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS778390089 TRPM1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS778390161 ACE Health Risk Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS778390847 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity
RS778391123 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778391319 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS778391726 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS778392569 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778393434 GRM6 Health Risk Pathogenic —
RS778394235 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS778394237 ACBD5 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS778394259 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS778394516 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS778395191 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS778396216 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS778396468 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS778396953 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS778397152 SDHAF2 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS778397331 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
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