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
RS777573018 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS777573115 NAE1 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia, Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia
RS777573281 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS777573595 FOXI1 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS777574121 SLC34A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi renotubular syndrome 2
RS777574450 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS777574728 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS777575410 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS777575435 GFM1 Health Risk Likely pathogenic —
RS777575504 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS777576855 NDUFAF5 Health Risk Conflicting classifications of pathogenicity —
RS777578966 NRAP Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS777579457 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinal dystrophy
RS777580042 MYO3A Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Monogenic hearing loss
RS777580088 SLC12A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kilquist syndrome
RS777580253 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS777580652 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome, Wolfram syndrome 1
RS777581023 YAP1 Health Risk Conflicting classifications of pathogenicity —
RS777581847 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS777582022 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777582215 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS777587826 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS777589249 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS777589783 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS777589855 USH2A Health Risk Pathogenic —
RS777590147 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS777591544 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS777591848 CACNA1D Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS777592249 ABHD12 Health Risk Conflicting classifications of pathogenicity —
RS777592513 KAT6A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS777592623 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS77759270 ADAM17 Health Risk Conflicting classifications of pathogenicity Inflammatory skin and bowel disease, neonatal
RS777593389 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS777593835 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Progeroid and marfanoid aspect-lipodystrophy syndrome
RS777594776 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS777595673 TMPRSS3 Health Risk Conflicting classifications of pathogenicity TMPRSS3-related disorder, TMPRSS3-related disorder
RS777595871 SHOC1 Health Risk Pathogenic Spermatogenic failure 75, Spermatogenic failure 75
RS777596548 RXYLT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS777597757 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS777598117 TUBB2B Health Risk Conflicting classifications of pathogenicity —
RS777598239 SPATA7 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS777601008 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Peripheral neuropathy
RS777601326 RNF168 Health Risk Pathogenic —
RS777601721 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS777601935 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS777602049 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS777602537 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS777603154 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS777604168 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS777604445 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS777604507 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Inborn genetic diseases
RS777604559 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS777604931 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS777604935 DNA2 Health Risk Conflicting classifications of pathogenicity —
RS777607274 HPDL Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Inborn genetic diseases
RS777607869 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia
RS777607912 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS777608163 PKD1 Health Risk Pathogenic Inborn genetic diseases, Polycystic kidney disease
RS777609224 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS77760924 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS777609766 MTOR Health Risk Conflicting classifications of pathogenicity —
RS777610268 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777612081 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS777612317 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777613109 DSP Health Risk Conflicting classifications of pathogenicity —
RS777613343 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777614151 MBTPS1 Health Risk Pathogenic —
RS777614710 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777614848 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS777615798 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Stickler syndrome type 1
RS777615894 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777617756 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS777618772 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS777618921 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS777621636 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS777624416 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder
RS777624606 PANK2 Health Risk Likely pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS777624825 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS777625241 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS777625354 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS777626314 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS777626473 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777627168 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS777627665 COCH Health Risk Pathogenic —
RS777628634 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS777628688 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS777629392 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS777629750 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS777630263 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS777630298 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS777630688 RCBTB1 Health Risk Pathogenic/Likely pathogenic Coats disease, RCBTB1-related retinopathy
RS777631293 KRT5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777631605 FAT1 Health Risk Pathogenic —
RS777631884 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS777631984 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS777631995 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Ciliary dyskinesia
RS777632051 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS777632769 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS777635296 ACAD8 Health Risk Conflicting classifications of pathogenicity Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS777636050 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
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