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
RS202004831 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS202004938 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Autosomal dominant cerebellar ataxia
RS202005173 GORAB Health Risk Conflicting classifications of pathogenicity Geroderma osteodysplastica, Geroderma osteodysplastica
RS202005454 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS202005455 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, VCL-related disorder
RS202005598 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS202005710 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202006119 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS202006335 POMK Health Risk Pathogenic/Likely pathogenic Limb-girdle muscular dystrophy due to POMK deficiency, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS202006479 SCN8A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS202006528 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS202006815 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS202007062 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS202007119 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS202007590 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS202008454 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS202009431 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Fraser syndrome 3
RS202009583 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS202009716 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS202009944 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS202010117 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS202010726 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS202010959 ROR2 Health Risk Conflicting classifications of pathogenicity ROR2-related disorder, ROR2-related disorder
RS202011102 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS202011191 MME Health Risk Pathogenic/Likely pathogenic —
RS202011255 DPYD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202011408 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS202011521 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS202011565 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202011621 CYP2R1 Health Risk Pathogenic/Likely pathogenic Vitamin D hydroxylation-deficient rickets, type 1B
RS202011970 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS202011992 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS202012055 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS202012068 PLEC Health Risk Conflicting classifications of pathogenicity PLEC-related disorder, PLEC-related disorder
RS202012098 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS202012380 ASPM Health Risk Conflicting classifications of pathogenicity —
RS202012571 KNL1 Health Risk Conflicting classifications of pathogenicity —
RS202012817 ANKZF1 Health Risk Conflicting classifications of pathogenicity —
RS202012910 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS202013297 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS2020137674 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS202013788 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
RS2020138975 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2020139065 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2020139491 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS2020140911 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS202014178 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS202014429 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS202014478 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS202014541 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS202014758 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS202015088 TNK2 Health Risk Conflicting classifications of pathogenicity TNK2-related disorder, TNK2-related disorder
RS202015253 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS202015519 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS202015701 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS202016058 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS202016242 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS202016292 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS202017153 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS202017164 SLC6A19 Health Risk Conflicting classifications of pathogenicity —
RS202017278 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS202017360 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS202017613 ATP8A2 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS202018841 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS202019404 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, CAPN3-related disorder
RS202019416 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Inborn genetic diseases
RS202019417 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS202019721 FLG Health Risk Pathogenic —
RS202019723 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS202020014 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS202020063 GPRASP1 Health Risk Conflicting classifications of pathogenicity —
RS202020106 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS202020248 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202020308 TELO2 Health Risk Pathogenic/Likely pathogenic TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related disorder
RS202020396 UNC13D Health Risk Likely pathogenic —
RS202020443 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS202020458 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS202020477 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS202020492 NBAS Health Risk Pathogenic Infantile liver failure syndrome 2, Short stature-optic atrophy-Pelger-Huët anomaly syndrome
RS202020608 POLE Health Risk Conflicting classifications of pathogenicity —
RS202020778 ACTG1 Health Risk Conflicting classifications of pathogenicity ACTG1-related disorder, Autosomal dominant nonsyndromic hearing loss 20
RS202020907 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Inborn genetic diseases
RS202022170 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS202022202 CLIC5 Health Risk Conflicting classifications of pathogenicity CLIC5-related disorder, CLIC5-related disorder
RS202022304 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202022977 ESX1 Health Risk Conflicting classifications of pathogenicity —
RS202023138 ESRRB Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS202024173 IFT172 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS202024224 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS202024401 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS202024857 SAMHD1 Health Risk Conflicting classifications of pathogenicity Chilblain lupus 2, Aicardi-Goutieres syndrome 5
RS202025438 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2020255486 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS202025584 TPP1 Health Risk Conflicting classifications of pathogenicity —
RS2020256386 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, See cases
RS2020256932 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS202026355 PSAT1 Health Risk Conflicting classifications of pathogenicity PSAT deficiency, Neu-Laxova syndrome 2
RS202027115 HFE Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hereditary hemochromatosis
RS202027230 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202027632 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
« Prev 1 ... 1506 1507 1508 1509 1510 1511 1512 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →