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
RS760490617 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS760491068 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS760492866 ZNF407 Health Risk Conflicting classifications of pathogenicity ZNF407-related disorder, ZNF407-related disorder
RS760493118 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Malan overgrowth syndrome
RS760494152 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS760494159 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS760494751 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS760494753 SCLT1 Health Risk Pathogenic —
RS760495223 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS760499581 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS760501352 DSP Health Risk Conflicting classifications of pathogenicity Cardiac arrest, Arrhythmogenic right ventricular dysplasia 8
RS760501465 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS760501664 IRF2BPL Health Risk Conflicting classifications of pathogenicity IRF2BPL-related disorder, IRF2BPL-related disorder
RS760502262 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS760502380 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS760502479 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS760502556 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS760503314 CDK13 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS760504695 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS760505023 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760505057 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS760506346 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS760506481 PURA Health Risk Likely pathogenic —
RS760506977 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS760507032 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS760507781 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS760508807 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS760509116 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS760509198 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760509369 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS760509641 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS760510345 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS760510612 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS760512075 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS760512224 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS760514663 NSMCE2 Health Risk Pathogenic —
RS760515764 RHO Health Risk Pathogenic —
RS760515812 SIN3A Health Risk Conflicting classifications of pathogenicity —
RS760515993 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS760516093 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760516307 DMD Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype
RS760517494 HYDIN Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760518511 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS760520078 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Noonan syndrome 9
RS760520604 TBX19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS760520781 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS760521214 NUP133 Health Risk Likely pathogenic Nephrotic syndrome, type 18
RS760521217 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Seizures
RS760521859 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS760522659 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760522909 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS760523025 TULP3 Health Risk Pathogenic Hepatorenocardiac degenerative fibrosis, Hepatorenocardiac degenerative fibrosis
RS760524720 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS760524944 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierson syndrome
RS760524953 CD320 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia due to transcobalamin receptor defect, Methylmalonic acidemia due to transcobalamin receptor defect
RS760525448 F5 Health Risk Pathogenic/Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS760526545 TARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 21, Inborn genetic diseases
RS760526892 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760527672 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760528229 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS760529810 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS760529847 CHN1 Health Risk Conflicting classifications of pathogenicity —
RS760530339 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS760531501 STAR Health Risk Pathogenic —
RS760531845 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS760532040 SOBP Health Risk Conflicting classifications of pathogenicity —
RS760532492 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS760532554 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Hearing impairment
RS760533705 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, Predisposition to invasive fungal disease due to CARD9 deficiency
RS760534158 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760534895 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS760535401 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS760535753 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Holoprosencephaly 2
RS760536168 LMF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS760536869 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760537008 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS760537610 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS760537869 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS760538465 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS760539229 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS760539449 SOX10 Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS760539494 HOXD13 Health Risk Pathogenic HOXD13-related disorder, Syndactyly type 5
RS760539669 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760540562 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS760540648 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, IMAGe syndrome
RS760542683 EIF2B2 Health Risk Likely pathogenic —
RS760542761 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS760543068 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS760543147 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS760543320 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS760544219 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS760544654 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS760547081 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS760547155 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, MTTP-related disorder
RS760548186 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS760549861 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS760549929 NDUFA8 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 37
RS760550772 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS760551339 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS76055170 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, Isolated microphthalmia 2
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