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
RS141056046 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS141057568 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS141057811 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS141058563 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS1410587479 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS141059189 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMB3-related disorder
RS1410592269 PISD Health Risk Pathogenic Liberfarb syndrome, Liberfarb syndrome
RS141060367 PKP1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex due to plakophilin deficiency, Epidermolysis bullosa simplex due to plakophilin deficiency
RS1410604006 EXT2 Health Risk Pathogenic Exostoses, multiple
RS141060456 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS141061033 POC1A Health Risk Conflicting classifications of pathogenicity Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Inborn genetic diseases
RS141062252 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS1410625190 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1410631980 DMRT1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1410632651 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS141063672 HESX1 Health Risk Conflicting classifications of pathogenicity GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, Septo-optic dysplasia sequence
RS1410645881 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, CHD2-related disorder
RS141065357 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS141065708 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS141066173 DISP1 Health Risk Conflicting classifications of pathogenicity —
RS141066689 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS1410667316 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS141066870 COX15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141067069 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRAPPC9-related disorder
RS141068211 ASAH1 Health Risk Conflicting classifications of pathogenicity Farber lipogranulomatosis, Self-limited epilepsy with centrotemporal spikes
RS141068435 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1410689747 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1410690526 FA2H Health Risk Pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS141069312 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS141069645 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Atrial fibrillation
RS1410701535 CLCN7 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS141070315 ROR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ROR2-related disorder
RS1410705895 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS141071237 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141071579 BEST1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, BEST1-related disorder
RS1410724947 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS141072655 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1410727499 PHYH Health Risk Pathogenic —
RS141074059 CLCN2 Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS1410743762 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS141074403 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1L1-related disorder
RS141074491 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS141074983 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS141075124 LCT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1410753769 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1410754292 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1410766358 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1410766981 KIAA0586 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS141076788 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS141077224 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS141078173 EXPH5 Health Risk Conflicting classifications of pathogenicity EXPH5-related disorder, Inborn genetic diseases
RS141078292 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS141078303 NEDD4L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Periventricular nodular heterotopia 7
RS141078449 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS141078693 PDK1 Health Risk Conflicting classifications of pathogenicity —
RS141078746 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS141078955 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS141079076 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141079217 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS1410793870 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Recessive dystrophic epidermolysis bullosa
RS1410796140 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS141079733 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS1410802687 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1410809018 LIPA Health Risk Pathogenic/Likely pathogenic Wolman disease, Cholesteryl ester storage disease
RS141081295 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS141081456 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS141081974 CRAT Health Risk Conflicting classifications of pathogenicity —
RS141082182 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS141082575 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS141082783 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, TG-related disorder
RS1410829147 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1410842025 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1410846026 TG Health Risk Pathogenic —
RS141084668 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS141084758 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1410855815 SYNE1 Health Risk Pathogenic —
RS1410859141 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1410859610 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1410860026 IMPG2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS141086523 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS141086649 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related retinopathy
RS141086831 PIK3R5 Health Risk Conflicting classifications of pathogenicity PIK3R5-related disorder, PIK3R5-related disorder
RS1410871672 LAS1L Health Risk Conflicting classifications of pathogenicity Wilson-Turner syndrome, Wilson-Turner syndrome
RS141087784 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS141088021 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS141088934 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS141089340 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS141089495 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS141089827 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS1410900258 SCN8A Health Risk Conflicting classifications of pathogenicity SCN8A-related disorder, Early-infantile DEE
RS141090143 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, ACSF3-related disorder
RS141090393 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS141090506 PROKR2 Health Risk Conflicting classifications of pathogenicity HYPOGONADOTROPIC HYPOGONADISM 3 WITHOUT ANOSMIA, Hypogonadotropic hypogonadism 3 with or without anosmia
RS141090517 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS141091294 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS141091803 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1410925719 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS141093002 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS141093030 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1410933215 STXBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
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