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
RS185405599 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS185405908 MKS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 13, Meckel syndrome
RS1854124484 ANO5 Health Risk Pathogenic —
RS1854126127 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS185412729 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS185412918 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 13
RS185418856 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Transient Neonatal Diabetes
RS185423024 TOP3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1854232508 OTOG Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1854257578 ZMIZ1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
RS185429231 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS185430973 HERC1 Health Risk Conflicting classifications of pathogenicity Macrocephaly, dysmorphic facies
RS185432248 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS185433570 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1854350169 ZMIZ1 Health Risk Likely pathogenic —
RS185436876 OLFML2B Health Risk Likely pathogenic —
RS185438769 KIF5A Health Risk Conflicting classifications of pathogenicity —
RS185439615 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS185441677 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1854473658 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1854492172 TNNT3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS185449721 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS185450880 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1854515495 DPF2 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
RS1854517568 DPF2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185459765 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS1854614432 DPF2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185461628 CLPB Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS185461968 NARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NARS2-related disorder
RS185464679 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1854664337 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS185468213 STARD9 Health Risk Conflicting classifications of pathogenicity —
RS185469456 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1854701811 DPF2 Health Risk Conflicting classifications of pathogenicity —
RS185475790 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS185476065 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder
RS185476073 CA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1854764280 PCNX3 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS185479436 KIT Health Risk Conflicting classifications of pathogenicity Piebaldism, Gastrointestinal stromal tumor
RS185479515 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS185479618 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Spastic ataxia 2
RS185480031 ADAMTSL4 Health Risk Likely pathogenic —
RS1854806983 ZMIZ1 Health Risk Likely pathogenic Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder
RS185480820 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS185480832 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS185482276 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS185482345 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1854876433 NDUFV1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS185492864 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS1854932368 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS185496567 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS185499373 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Treacher Collins syndrome 3
RS185503240 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS185504536 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS185504549 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS185504937 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked sideroblastic anemia 1
RS1855050882 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS185508862 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS185510059 CPAMD8 Health Risk Conflicting classifications of pathogenicity —
RS185511111 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS1855113733 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1855118837 ADK Health Risk Likely pathogenic Adenosine kinase deficiency, Adenosine kinase deficiency
RS1855124785 ZMIZ1 Health Risk Likely pathogenic Syndromic neurodevelopmental disorder, Syndromic neurodevelopmental disorder
RS1855126420 ZMIZ1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1855151891 TCIRG1 Health Risk Pathogenic —
RS185516533 ANK1 Health Risk Conflicting classifications of pathogenicity Spherocytosis, Hereditary spherocytosis type 1
RS185522709 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1855236679 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855249165 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855256745 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS185527578 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1855280375 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855290865 TCIRG1 Health Risk Likely pathogenic —
RS185531778 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS185531813 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS1855322463 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1855343916 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855347940 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855356909 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS185536034 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1855366408 SCYL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS185538375 WDR73 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WDR73-related disorder
RS1855400542 TCIRG1 Health Risk Likely pathogenic —
RS185550846 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS185551108 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Inborn genetic diseases
RS185551386 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS185554955 SCNN1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1855554681 TPP1 Health Risk Pathogenic/Likely pathogenic —
RS1855554832 TPP1 Health Risk Pathogenic —
RS1855559040 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS185555941 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1855559514 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1855562978 TPP1 Health Risk Likely pathogenic —
RS1855570841 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855575593 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS185557595 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1855576051 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1855576182 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS1855583482 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS1855585414 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
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