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
RS756067217 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS756068066 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS756068705 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS756069384 PTCH1 Health Risk Likely pathogenic Rhabdomyosarcoma, Rhabdomyosarcoma
RS756069405 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS756069599 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS756070988 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS756071120 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, See cases
RS756072030 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Hypomyelinating leukodystrophy 11
RS756073260 TWNK Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS756074454 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHARGE syndrome
RS756075225 COMP Health Risk Conflicting classifications of pathogenicity COMP-related disorder, COMP-related disorder
RS756075877 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS756076960 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS756077143 CYP26B1 Health Risk Likely pathogenic Lethal occipital encephalocele-skeletal dysplasia syndrome, Lethal occipital encephalocele-skeletal dysplasia syndrome
RS756078257 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS756078681 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS756080695 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS756080885 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS756081560 ADAMTSL4 Health Risk Likely pathogenic —
RS756082859 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756083426 NOVA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756083696 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS756084170 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS756085990 NFU1 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 1, Familial cancer of breast
RS756087583 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS756087785 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS756088593 SI Health Risk Pathogenic —
RS756090222 ANKS6 Health Risk Pathogenic Nephronophthisis 16, Nephronophthisis 16
RS756091180 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756093689 GNPTG Health Risk Pathogenic —
RS756094298 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS756095042 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Inborn genetic diseases
RS756096368 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS756096769 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS756098102 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS756098317 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756099573 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756099600 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS756100330 COL12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ullrich congenital muscular dystrophy 2
RS756101133 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS756101515 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS756101924 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756102768 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS756103019 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS756103623 PLAA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756103727 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756103866 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS756104818 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756105620 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS756105948 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS756108143 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS756109661 LPIN2 Health Risk Likely pathogenic Majeed syndrome, Majeed syndrome
RS756110037 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS756111113 NPHP4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Kidney disorder
RS756112023 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS756112245 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS756112449 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis 10
RS756114192 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756114856 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases
RS756115857 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756116434 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS756116550 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS756116554 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS756117435 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS756117745 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, Acrocallosal syndrome
RS756118312 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS756119154 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS756119359 FZD4 Health Risk Conflicting classifications of pathogenicity —
RS756120041 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS756121249 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases
RS756121992 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS756122519 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS756122685 CACNA2D4 Health Risk Conflicting classifications of pathogenicity —
RS756122840 REN Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Familial juvenile hyperuricemic nephropathy type 2
RS756124960 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS756125441 TF Health Risk Conflicting classifications of pathogenicity Atransferrinemia, Atransferrinemia
RS756125442 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS756125516 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 15 conditions
RS756126843 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS756127631 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Seizures
RS756127972 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS756128065 VPS13C Health Risk Likely pathogenic —
RS756128531 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS756128568 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, Anauxetic dysplasia
RS756128712 DPH1 Health Risk Pathogenic/Likely pathogenic Developmental delay with short stature, dysmorphic facial features
RS756130118 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS756130763 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS756131136 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS756131313 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS756131416 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS756131787 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS756131845 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS756133268 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS756133651 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS756134134 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS756134516 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Inborn genetic diseases
RS756134541 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS756134838 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS756135168 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, 17-alpha-hydroxylase/17
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