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
RS201726561 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS201726622 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS201727026 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201727231 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, See cases
RS201727519 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS201727614 CFHR4 Health Risk Conflicting classifications of pathogenicity —
RS201727625 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS201727684 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201727685 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS201728041 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS201728087 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS201728138 FLG Health Risk Pathogenic —
RS201728139 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS201728165 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201728190 LGI4 Health Risk Conflicting classifications of pathogenicity Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS201728664 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201728850 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201728852 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Carney-Stratakis syndrome
RS201728920 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D
RS201728948 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, autosomal recessive
RS201729325 ALG2 Health Risk Pathogenic ALG2-congenital disorder of glycosylation, ALG2-congenital disorder of glycosylation
RS201730053 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS201730395 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, TRIOBP-related disorder
RS201730567 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS201730639 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TUBGCP6-related disorder
RS201730717 STRA6 Health Risk Conflicting classifications of pathogenicity Matthew-Wood syndrome, STRA6-related disorder
RS201731199 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS201731254 GCKR Health Risk Conflicting classifications of pathogenicity —
RS201731351 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201731360 F10 Health Risk Conflicting classifications of pathogenicity Hereditary factor X deficiency disease, Inborn genetic diseases
RS201731826 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201732170 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 17
RS201732356 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS201732770 MTSS2 Health Risk Conflicting classifications of pathogenicity —
RS201733037 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Meniere disease
RS201733073 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Inborn genetic diseases
RS201733315 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS201733323 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS201733548 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS201733620 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS201733659 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, RNF213-related disorder
RS201733876 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS201734007 ZMIZ1 Health Risk Conflicting classifications of pathogenicity —
RS201734228 LMF1 Health Risk Conflicting classifications of pathogenicity Lipase deficiency, combined
RS201734382 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome
RS201734774 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201734915 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO15A-related disorder
RS201735117 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy 6
RS201735169 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder
RS201735416 RORA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201735454 ADPRS Health Risk Pathogenic/Likely pathogenic Neurodegeneration, childhood-onset
RS201735487 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201735525 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS201735573 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201735609 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS201735614 RAB23 Health Risk Conflicting classifications of pathogenicity RAB23-related Carpenter syndrome, Carpenter syndrome
RS201735739 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS201735910 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Farber lipogranulomatosis
RS201736018 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS201736037 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS201736194 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS201736323 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS201736785 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201736972 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201737115 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS201737130 RECQL Health Risk Conflicting classifications of pathogenicity RECON progeroid syndrome, RECON progeroid syndrome
RS201737186 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS201737357 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia 1
RS201737471 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MTOR-related disorder
RS201737651 KIDINS220 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, intellectual disability
RS201737845 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS201738147 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS201738153 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201738258 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS201738371 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS201738416 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS201738475 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201738778 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS201738818 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, DOCK6-related disorder
RS201738967 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS201738997 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Abnormality of the eye
RS201739155 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, ALPL-related disorder
RS201739201 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS201739662 POC5 Health Risk Conflicting classifications of pathogenicity —
RS201739936 HR Health Risk Conflicting classifications of pathogenicity Atrichia with papular lesions, Alopecia universalis congenita
RS201740125 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS201740483 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 2A
RS201740530 SPAG1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 5, Kartagener syndrome
RS201741449 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS201741770 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS201741778 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS201742042 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 30
RS201742383 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS201742794 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS201743866 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Inborn genetic diseases
RS201744218 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201744227 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS201744351 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS201744589 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS201744678 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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