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
RS1314795030 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1314805334 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS1314816485 CEP78 Health Risk Conflicting classifications of pathogenicity CEP78-related disorder, Moyamoya angiopathy
RS1314818291 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1314843352 HELLS Health Risk Pathogenic —
RS1314846403 TANGO2 Health Risk Pathogenic —
RS1314850102 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1314863621 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1314876691 DHDDS Health Risk Likely pathogenic Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS1314889289 NIPA1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
RS1314906579 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1314919218 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS1314926139 TTLL5 Health Risk Likely pathogenic —
RS1314951341 ADAMTSL2 Health Risk Likely pathogenic —
RS1314954470 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1314967038 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1314978150 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1314985669 LOXHD1 Health Risk Conflicting classifications of pathogenicity —
RS1314991058 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS1314994550 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS1315006961 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1315010600 LRSAM1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS1315020035 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1315025418 PDZD7 Health Risk Pathogenic —
RS1315043080 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1315050421 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1315059139 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1315073489 FOXL2 Health Risk Likely pathogenic Blepharophimosis, ptosis
RS1315092621 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1315101894 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1315110517 ABCB4 Health Risk Pathogenic/Likely pathogenic ABCB4-related disorder, ABCB4-related disorder
RS1315121473 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1315130083 TSEN54 Health Risk Pathogenic —
RS1315150327 VPS13C Health Risk Pathogenic/Likely pathogenic —
RS1315159982 EYS Health Risk Pathogenic —
RS1315179643 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1315180615 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1315181384 RP1 Health Risk Pathogenic —
RS1315207101 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1315245986 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1315251471 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1315255373 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1315260083 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1315262605 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1315265916 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1315270235 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1315293522 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS1315308939 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS1315327163 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1315351235 ALMS1 Health Risk Pathogenic Retinal dystrophy, Alstrom syndrome
RS1315355162 SNAP29 Health Risk Pathogenic —
RS1315359733 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1315372184 SLC26A4 Health Risk Pathogenic —
RS1315385196 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS1315389362 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS1315416272 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1315418086 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1315421427 ALKBH8 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder, autosomal recessive 71
RS1315422549 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1315427088 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1315439478 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1315440559 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1315445200 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1315448028 CACNA1H Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hyperaldosteronism
RS1315452792 MCPH1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive primary microcephaly, Microcephaly 1
RS1315464682 MMUT Health Risk Pathogenic —
RS1315483224 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS1315515436 GRHL3 Health Risk Pathogenic Isolated cleft palate, Isolated cleft palate
RS1315521603 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1315521885 CC2D1A Health Risk Likely pathogenic —
RS1315527384 FLVCR1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1315533129 CACNA1A Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 2, Migraine
RS1315540509 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS1315541036 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Spastic tetraplegia and axial hypotonia
RS1315543696 USH2A Health Risk Pathogenic —
RS1315559074 DPAGT1 Health Risk Pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS1315561755 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1315598070 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1315600520 VPS45 Health Risk Conflicting classifications of pathogenicity Congenital neutropenia-myelofibrosis-nephromegaly syndrome, Congenital neutropenia-myelofibrosis-nephromegaly syndrome
RS1315607990 RPE65 Health Risk Pathogenic RPE65-related recessive retinopathy, RPE65-related recessive retinopathy
RS1315631422 PTPN23 Health Risk Pathogenic —
RS1315636646 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1315638826 POLD1 Health Risk Conflicting classifications of pathogenicity Mandibular hypoplasia-deafness-progeroid syndrome, Micrognathia
RS1315644130 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1315674155 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1315680518 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1315692124 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1315692382 EYS Health Risk Pathogenic —
RS1315693882 COL9A2 Health Risk Pathogenic —
RS1315696593 TECTA Health Risk Likely pathogenic TECTA-related disorder, TECTA-related disorder
RS1315723631 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1315729938 RAG2 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS1315730321 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis
RS1315773964 ADGRV1 Health Risk Pathogenic —
RS1315777461 AKR1D1 Health Risk Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS1315792143 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1315805984 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1315818704 LPIN1 Health Risk Pathogenic —
RS1315830175 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1315840625 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
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