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
RS148057374 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS148057665 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS148058006 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1480581747 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS148058893 CCDC148 Health Risk Conflicting classifications of pathogenicity —
RS148058949 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS1480591236 OBSCN Health Risk Likely pathogenic Short stature, Short stature
RS148059333 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS148059394 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS1480597482 PCSK1 Health Risk Pathogenic Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency
RS148059981 DYM Health Risk Likely pathogenic —
RS148060790 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS148061139 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1480612338 DHH Health Risk Likely pathogenic 46, XY sex reversal 7
RS1480620991 COL2A1 Health Risk Likely pathogenic —
RS148062883 CDC45 Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, CDC45-related disorder
RS148063325 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS148063549 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Wagner disease
RS1480639715 ADAMTS19 Health Risk Pathogenic —
RS1480640960 NAGLU Health Risk Likely pathogenic —
RS1480641848 IFT81 Health Risk Likely pathogenic —
RS148064542 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS148064565 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS1480647123 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS148064985 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS148065050 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS148065361 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
RS1480661335 POLH Health Risk Pathogenic —
RS148066529 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS148066812 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1480670755 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1480671731 ODAD3 Health Risk Likely pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS148067213 SMPD1 Health Risk Conflicting classifications of pathogenicity Sphingomyelin/cholesterol lipidosis, Niemann-Pick disease
RS148067486 TOE1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 7, Inborn genetic diseases
RS148067743 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS148068880 COL27A1 Health Risk Conflicting classifications of pathogenicity COL27A1-related disorder, COL27A1-related disorder
RS1480691710 SORL1 Health Risk Pathogenic —
RS148069173 COG5 Health Risk Pathogenic/Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS1480693766 OTOA Health Risk Pathogenic —
RS148069478 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1480696575 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1480697910 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1480698078 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Kartagener syndrome
RS1480709252 SPART Health Risk Pathogenic —
RS148071386 PPP2CA Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS1480723806 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer
RS148072630 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, SLC34A3-related disorder
RS148073122 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1480738447 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS148074196 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148074630 VPS13C Health Risk Pathogenic/Likely pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS148074899 ADGRE2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant vibratory urticaria, Autosomal dominant vibratory urticaria
RS148075057 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS1480758482 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS148076256 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1480764714 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1480778616 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS148078248 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS148078511 PHGDH Health Risk Conflicting classifications of pathogenicity PHGDH deficiency, PHGDH-related disorder
RS148078801 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS148079992 PRDM5 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1480804197 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1480809832 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1480810435 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS148081315 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS1480815491 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS148081681 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Intellectual disability
RS148081697 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS148081735 CDON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly 11
RS148081784 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS1480825246 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1480832655 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS148083430 TRIOBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRIOBP-related disorder
RS148084355 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS1480850606 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS148086431 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS148087185 TLL1 Health Risk Conflicting classifications of pathogenicity —
RS148087680 B9D2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS148089143 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1480900512 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS1480910058 RBP3 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS148091207 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS148091558 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS148091643 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3
RS1480917996 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1480919035 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Nephrotic syndrome
RS148092515 MRPS2 Health Risk Conflicting classifications of pathogenicity —
RS148092524 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS148092995 ARSA Health Risk Pathogenic/Likely pathogenic ARYLSULFATASE A PSEUDODEFICIENCY, Metachromatic leukodystrophy
RS148093208 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS148093336 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 66, RBP3-related disorder
RS1480934668 CDHR1 Health Risk Pathogenic —
RS1480934961 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS148094180 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS148094198 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS148094797 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS148094880 NCKAP1L Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Acute myeloid leukemia
RS148094939 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148095061 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1480951752 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
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