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
RS5964007 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS59662841 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS59684335 LMNA Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Dilated cardiomyopathy 1S
RS59685571 KRT6A Health Risk Pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS5969 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Plasma factor XI deficiency
RS59690629 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH17-related disorder
RS59691602 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmented paravenous retinochoroidal atrophy
RS59709076 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS59730172 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex 2C, localized
RS59759676 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS59793293 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS5982 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS5983 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS59840738 KRT5 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2B
RS59844753 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS5985 F13A1 Health Risk Conflicting classifications of pathogenicity Myocardial infarction, protection against
RS59852838 ABCC8 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Permanent neonatal diabetes mellitus
RS59856285 KRT16 Health Risk Pathogenic Palmoplantar keratoderma, nonepidermolytic
RS59878153 KRT9 Health Risk Pathogenic Epidermolytic palmoplantar keratoderma, 1
RS59885338 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2
RS59886214 LMNA Health Risk Pathogenic Hutchinson-Gilford syndrome, Hutchinson-Gilford syndrome
RS5989 F13A1 Health Risk Conflicting classifications of pathogenicity Factor XIII, A subunit
RS59897026 KRT13 Health Risk Pathogenic White sponge nevus 2, White sponge nevus 2
RS5991 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS59912693 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS59914820 LMNA Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS59915619 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS59931416 LMNA Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to LMNA mutation, Charcot-Marie-Tooth disease type 2
RS59933498 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS5994 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS59950911 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS59952053 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS59956343 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS59962885 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Desmin-related myofibrillar myopathy
RS59966597 KRT14 Health Risk Pathogenic Palmoplantar blistering, Skin fragility with non-scarring blistering
RS59977263 KRT17 Health Risk Pathogenic Pachyonychia congenita 2, Pachyonychia congenita 2
RS59978698 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS59981161 LMNA Health Risk Pathogenic Familial partial lipodystrophy, Dunnigan type
RS5999 F13B Health Risk Conflicting classifications of pathogenicity F13B-related disorder, Factor XIII
RS60035576 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2B, autosomal recessive
RS60040113 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS6006 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, Factor V deficiency
RS6007 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Thrombophilia due to activated protein C resistance
RS6008 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS60090257 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS6010209 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Microcephaly and chorioretinopathy 1, Inborn genetic diseases
RS60103800 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS6011 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Thrombocytopenia
RS6011230 DNAJC5 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS60118264 KRT10 Health Risk Pathogenic Epidermolytic hyperkeratosis 2A, autosomal dominant
RS60171927 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS60184489 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS60185966 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS60203778 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS60216939 ATN1 Health Risk Conflicting classifications of pathogenicity Dentatorubral-pallidoluysian atrophy, Dentatorubral-pallidoluysian atrophy
RS60231560 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1D, generalized
RS6025 F5 Health Risk Conflicting classifications of pathogenicity Budd-Chiari syndrome, susceptibility to
RS60261494 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS6026588 GNAS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS60269890 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS60271599 KRT5 Health Risk Pathogenic —
RS60279874 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS60284677 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS60290646 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS60297570 KRT1 Health Risk Likely pathogenic —
RS6030 F5 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to activated protein C resistance, Congenital factor V deficiency
RS60310264 LMNA Health Risk Pathogenic Hutchinson-Gilford progeria syndrome, atypical
RS60338701 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS6034 F5 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to activated protein C resistance, Factor V deficiency
RS60343255 GFAP Health Risk Pathogenic Alexander disease, Alexander disease
RS60352920 KRT14 Health Risk Pathogenic —
RS60373464 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS60376624 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS60399023 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex 1A, generalized severe
RS60407644 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS60410063 KRT3 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS604131 HBA1 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS60431989 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS60440396 KRT13 Health Risk Pathogenic White sponge nevus 2, White sponge nevus 2
RS60445853 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS60446065 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS60447237 KRT1 Health Risk Pathogenic Diffuse nonepidermolytic palmoplantar keratoderma, Diffuse nonepidermolytic palmoplantar keratoderma
RS60451214 CNTNAP2 Health Risk Conflicting classifications of pathogenicity —
RS6045440 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS60458016 LMNA Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant
RS6046 F7 Health Risk Conflicting classifications of pathogenicity Myocardial infarction, decreased susceptibility to
RS60466225 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS60470268 KRT14 Health Risk Pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS60484572 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS60504011 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS60538473 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS6053893 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, FERMT1-related disorder
RS6054 FGB Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Congenital afibrinogenemia
RS6055363 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS60554162 KRT6A Health Risk Pathogenic/Likely pathogenic Pachyonychia congenita 3, Pachyonychia congenita 3
RS60578328 LMNA Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS6058017 ASIP Health Risk association SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR
RS60586163 KRT5 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2C
RS6060148 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS60612575 KRT86 Health Risk Pathogenic Monilethrix, Monilethrix
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